-
1
-
-
84863556835
-
Evolution and functional impact of rare coding variation from deep sequencing of human exomes
-
22604720
-
Tennessen JA, Bigham AW, O'Connor TD, Fu W, Kenny EE, Gravel S, McGee S, Do R, Liu X, Jun G, Kang HM, Jordan D, Leal SM, Gabriel S, Rieder MJ, Abecasis G, Altshuler D, Nickerson DA, Boerwinkle E, Sunyaev S, Bustamante CD, Bamshad MJ, Akey JM. Evolution and functional impact of rare coding variation from deep sequencing of human exomes. Science 2012, 337:64-69. 22604720.
-
(2012)
Science
, vol.337
, pp. 64-69
-
-
Tennessen, J.A.1
Bigham, A.W.2
O'Connor, T.D.3
Fu, W.4
Kenny, E.E.5
Gravel, S.6
McGee, S.7
Do, R.8
Liu, X.9
Jun, G.10
Kang, H.M.11
Jordan, D.12
Leal, S.M.13
Gabriel, S.14
Rieder, M.J.15
Abecasis, G.16
Altshuler, D.17
Nickerson, D.A.18
Boerwinkle, E.19
Sunyaev, S.20
Bustamante, C.D.21
Bamshad, M.J.22
Akey, J.M.23
more..
-
2
-
-
79961091828
-
Demographic history and rare allele sharing among human populations
-
21730125
-
Gravel S, Henn BM, Gutenkunst RN, Indap AR, Marth GT, Clark AG, Yu F, Gibbs RA, Bustamante CD. Demographic history and rare allele sharing among human populations. Proc Natl Acad Sci U S A 2011, 108:11983-11988. 21730125.
-
(2011)
Proc Natl Acad Sci U S A
, vol.108
, pp. 11983-11988
-
-
Gravel, S.1
Henn, B.M.2
Gutenkunst, R.N.3
Indap, A.R.4
Marth, G.T.5
Clark, A.G.6
Yu, F.7
Gibbs, R.A.8
Bustamante, C.D.9
-
3
-
-
84860817223
-
Recent explosive human population growth has resulted in an excess of rare genetic variants
-
22582263
-
Keinan A, Clark AG. Recent explosive human population growth has resulted in an excess of rare genetic variants. Science 2012, 336:740-743. 22582263.
-
(2012)
Science
, vol.336
, pp. 740-743
-
-
Keinan, A.1
Clark, A.G.2
-
4
-
-
79951810290
-
The importance of phase information for human genomics
-
21301473
-
Tewhey R, Bansal V, Torkamani A, Topol EJ, Schork NJ. The importance of phase information for human genomics. Nat Rev Genet 2011, 12:215-223. 21301473.
-
(2011)
Nat Rev Genet
, vol.12
, pp. 215-223
-
-
Tewhey, R.1
Bansal, V.2
Torkamani, A.3
Topol, E.J.4
Schork, N.J.5
-
5
-
-
78751575355
-
Genomics: no half measures for haplotypes
-
21191422
-
Muers M. Genomics: no half measures for haplotypes. Nat Rev Genet 2011, 12:77. 21191422.
-
(2011)
Nat Rev Genet
, vol.12
, pp. 77
-
-
Muers, M.1
-
6
-
-
84867713167
-
Systems approaches to biology and disease enable translational systems medicine
-
23084773
-
Tian Q, Hood L. Systems approaches to biology and disease enable translational systems medicine. Genomics Proteomics Bioinformatics 2012, 10:181-185. 23084773.
-
(2012)
Genomics Proteomics Bioinformatics
, vol.10
, pp. 181-185
-
-
Tian, Q.1
Hood, L.2
-
7
-
-
0141739796
-
Haplotypes and the systematic analysis of genetic variation in genes and genomes
-
12943464
-
Hoehe MR. Haplotypes and the systematic analysis of genetic variation in genes and genomes. Pharmacogenomics 2003, 4:547-570. 12943464.
-
(2003)
Pharmacogenomics
, vol.4
, pp. 547-570
-
-
Hoehe, M.R.1
-
8
-
-
80052709095
-
Chromosomal haplotypes by genetic phasing of human families
-
21855840
-
Roach JC, Glusman G, Hubley R, Montsaroff SZ, Holloway AK, Mauldin DE, Srivastava D, Garg V, Pollard KS, Galas DJ, Hood L, Smit AF. Chromosomal haplotypes by genetic phasing of human families. Am J Hum Genet 2011, 89:382-397. 21855840.
-
(2011)
Am J Hum Genet
, vol.89
, pp. 382-397
-
-
Roach, J.C.1
Glusman, G.2
Hubley, R.3
Montsaroff, S.Z.4
Holloway, A.K.5
Mauldin, D.E.6
Srivastava, D.7
Garg, V.8
Pollard, K.S.9
Galas, D.J.10
Hood, L.11
Smit, A.F.12
-
9
-
-
52949141845
-
Integrated detection and population-genetic analysis of SNPs and copy number variation
-
18776908
-
McCarroll SA, Kuruvilla FG, Korn JM, Cawley S, Nemesh J, Wysoker A, Shapero MH, de Bakker PIW, Maller JB, Kirby A, Elliott AL, Parkin M, Hubbell E, Webster T, Mei R, Veitch J, Collins PJ, Handsaker R, Lincoln S, Nizzari M, Blume J, Jones KW, Rava R, Daly MJ, Gabriel SB, Altshuler D. Integrated detection and population-genetic analysis of SNPs and copy number variation. Nat Genet 2008, 40:1166-1174. 18776908.
-
(2008)
Nat Genet
, vol.40
, pp. 1166-1174
-
-
McCarroll, S.A.1
Kuruvilla, F.G.2
Korn, J.M.3
Cawley, S.4
Nemesh, J.5
Wysoker, A.6
Shapero, M.H.7
de Bakker, P.I.W.8
Maller, J.B.9
Kirby, A.10
Elliott, A.L.11
Parkin, M.12
Hubbell, E.13
Webster, T.14
Mei, R.15
Veitch, J.16
Collins, P.J.17
Handsaker, R.18
Lincoln, S.19
Nizzari, M.20
Blume, J.21
Jones, K.W.22
Rava, R.23
Daly, M.J.24
Gabriel, S.B.25
Altshuler, D.26
more..
-
10
-
-
78651304279
-
Whole-genome molecular haplotyping of single cells
-
21170043
-
Fan HC, Wang J, Potanina A, Quake SR. Whole-genome molecular haplotyping of single cells. Nat Biotechnol 2011, 29:51-57. 21170043.
-
(2011)
Nat Biotechnol
, vol.29
, pp. 51-57
-
-
Fan, H.C.1
Wang, J.2
Potanina, A.3
Quake, S.R.4
-
11
-
-
40449100030
-
Direct multiplexed measurement of gene expression with color-coded probe pairs
-
18278033
-
Geiss GK, Bumgarner RE, Birditt B, Dahl T, Dowidar N, Dunaway DL, Fell HP, Ferree S, George RD, Grogan T, James JJ, Maysuria M, Mitton JD, Oliveri P, Osborn JL, Peng T, Ratcliffe AL, Webster PJ, Davidson EH, Hood L, Dimitrov K. Direct multiplexed measurement of gene expression with color-coded probe pairs. Nat Biotechnol 2008, 26:317-325. 18278033.
-
(2008)
Nat Biotechnol
, vol.26
, pp. 317-325
-
-
Geiss, G.K.1
Bumgarner, R.E.2
Birditt, B.3
Dahl, T.4
Dowidar, N.5
Dunaway, D.L.6
Fell, H.P.7
Ferree, S.8
George, R.D.9
Grogan, T.10
James, J.J.11
Maysuria, M.12
Mitton, J.D.13
Oliveri, P.14
Osborn, J.L.15
Peng, T.16
Ratcliffe, A.L.17
Webster, P.J.18
Davidson, E.H.19
Hood, L.20
Dimitrov, K.21
more..
-
12
-
-
84877156149
-
Sequencing of isolated sperm cells for direct haplotyping of a human genome
-
23282328
-
Kirkness EF, Grindberg RV, Yee-Greenbaum J, Marshall CR, Scherer SW, Lasken RS, Venter JC. Sequencing of isolated sperm cells for direct haplotyping of a human genome. Genome Res 2013, 23:826-832. 23282328.
-
(2013)
Genome Res
, vol.23
, pp. 826-832
-
-
Kirkness, E.F.1
Grindberg, R.V.2
Yee-Greenbaum, J.3
Marshall, C.R.4
Scherer, S.W.5
Lasken, R.S.6
Venter, J.C.7
-
13
-
-
77951652022
-
Direct determination of molecular haplotypes by chromosome microdissection
-
20305652
-
Ma L, Xiao Y, Huang H, Wang Q, Rao W, Feng Y, Zhang K, Song Q. Direct determination of molecular haplotypes by chromosome microdissection. Nat Methods 2010, 7:299-301. 20305652.
-
(2010)
Nat Methods
, vol.7
, pp. 299-301
-
-
Ma, L.1
Xiao, Y.2
Huang, H.3
Wang, Q.4
Rao, W.5
Feng, Y.6
Zhang, K.7
Song, Q.8
-
14
-
-
78651109312
-
Completely phased genome sequencing through chromosome sorting
-
21169219
-
Yang H, Chen X, Wong WH. Completely phased genome sequencing through chromosome sorting. Proc Natl Acad Sci U S A 2011, 108:12-17. 21169219.
-
(2011)
Proc Natl Acad Sci U S A
, vol.108
, pp. 12-17
-
-
Yang, H.1
Chen, X.2
Wong, W.H.3
-
15
-
-
84870568548
-
Mapping and sequencing DNA using nanopores and nanodetectors
-
23208922
-
Thompson JF, Oliver JS. Mapping and sequencing DNA using nanopores and nanodetectors. Electrophoresis 2012, 33:3429-3436. 23208922.
-
(2012)
Electrophoresis
, vol.33
, pp. 3429-3436
-
-
Thompson, J.F.1
Oliver, J.S.2
-
16
-
-
84864883566
-
Genome mapping on nanochannel arrays for structural variation analysis and sequence assembly
-
22797562
-
Lam ET, Hastie A, Lin C, Ehrlich D, Das SK, Austin MD, Deshpande P, Cao H, Nagarajan N, Xiao M, Kwok P-Y. Genome mapping on nanochannel arrays for structural variation analysis and sequence assembly. Nat Biotechnol 2012, 30:771-776. 22797562.
-
(2012)
Nat Biotechnol
, vol.30
, pp. 771-776
-
-
Lam, E.T.1
Hastie, A.2
Lin, C.3
Ehrlich, D.4
Das, S.K.5
Austin, M.D.6
Deshpande, P.7
Cao, H.8
Nagarajan, N.9
Xiao, M.10
Kwok, P.-Y.11
-
17
-
-
84908513108
-
Next generation sequencing technology: advances and applications
-
Buermans HPJ, den Dunnen JT: Next generation sequencing technology: advances and applications.Biochim Biophys Acta 2014, doi:10.1016/j.bbadis.2014.06.01.
-
(2014)
Biochim Biophys Acta
-
-
Buermans, H.P.J.1
den Dunnen, J.T.2
-
18
-
-
0029610763
-
Random subcloning
-
8808467
-
Roach JC. Random subcloning. Genome Res 1995, 5:464-473. 8808467.
-
(1995)
Genome Res
, vol.5
, pp. 464-473
-
-
Roach, J.C.1
-
19
-
-
0028987725
-
Pairwise end sequencing: a unified approach to genomic mapping and sequencing
-
7601461
-
Roach JC, Boysen C, Wang K, Hood L. Pairwise end sequencing: a unified approach to genomic mapping and sequencing. Genomics 1995, 26:345-353. 7601461.
-
(1995)
Genomics
, vol.26
, pp. 345-353
-
-
Roach, J.C.1
Boysen, C.2
Wang, K.3
Hood, L.4
-
20
-
-
0033852257
-
Parking strategies for genome sequencing
-
10899151
-
Roach JC, Thorsson V, Siegel AF. Parking strategies for genome sequencing. Genome Res 2000, 10:1020-1030. 10899151.
-
(2000)
Genome Res
, vol.10
, pp. 1020-1030
-
-
Roach, J.C.1
Thorsson, V.2
Siegel, A.F.3
-
21
-
-
48949103013
-
An MCMC algorithm for haplotype assembly from whole-genome sequence data
-
18676820
-
Bansal V, Halpern AL, Axelrod N, Bafna V. An MCMC algorithm for haplotype assembly from whole-genome sequence data. Genome Res 2008, 18:1336-1346. 18676820.
-
(2008)
Genome Res
, vol.18
, pp. 1336-1346
-
-
Bansal, V.1
Halpern, A.L.2
Axelrod, N.3
Bafna, V.4
-
22
-
-
49549099085
-
HapCUT: an efficient and accurate algorithm for the haplotype assembly problem
-
18689818
-
Bansal V, Bafna V. HapCUT: an efficient and accurate algorithm for the haplotype assembly problem. Bioinformatics 2008, 24:i153-i159. 18689818.
-
(2008)
Bioinformatics
, vol.24
, pp. i153-i159
-
-
Bansal, V.1
Bafna, V.2
-
23
-
-
77954211441
-
Optimal algorithms for haplotype assembly from whole-genome sequence data
-
20529904
-
He D, Choi A, Pipatsrisawat K, Darwiche A, Eskin E. Optimal algorithms for haplotype assembly from whole-genome sequence data. Bioinformatics 2010, 26:i183-i190. 20529904.
-
(2010)
Bioinformatics
, vol.26
, pp. i183-i190
-
-
He, D.1
Choi, A.2
Pipatsrisawat, K.3
Darwiche, A.4
Eskin, E.5
-
24
-
-
0007229860
-
The complete amino acid sequence of the protein of Tobacco Mosaic Virus
-
16590772
-
Tsugita A, Gish DT, Young J, Fraenkel-Conrat H, Knight CA, Stanley WM. The complete amino acid sequence of the protein of Tobacco Mosaic Virus. Proc Natl Acad Sci U S A 1960, 46:1463-1469. 16590772.
-
(1960)
Proc Natl Acad Sci U S A
, vol.46
, pp. 1463-1469
-
-
Tsugita, A.1
Gish, D.T.2
Young, J.3
Fraenkel-Conrat, H.4
Knight, C.A.5
Stanley, W.M.6
-
25
-
-
3442901662
-
Random-clone strategy for genomic restriction mapping in yeast
-
3463999
-
Olson MV, Dutchik JE, Graham MY, Brodeur GM, Helms C, Frank M, MacCollin M, Scheinman R, Frank T. Random-clone strategy for genomic restriction mapping in yeast. Proc Natl Acad Sci U S A 1986, 83:7826-7830. 3463999.
-
(1986)
Proc Natl Acad Sci U S A
, vol.83
, pp. 7826-7830
-
-
Olson, M.V.1
Dutchik, J.E.2
Graham, M.Y.3
Brodeur, G.M.4
Helms, C.5
Frank, M.6
MacCollin, M.7
Scheinman, R.8
Frank, T.9
-
26
-
-
84943255398
-
SNPs problems, complexity and algorithms. In Algorithms - ESA
-
Edited by auf der Heide FM. Berlin, Heidelberg: Springer; 2001
-
Lancia G, Bafna V, Istrail S, Lippert R, Schwartz R: SNPs problems, complexity and algorithms. In Algorithms - ESA 2001. Volume 2161. Edited by auf der Heide FM. Berlin, Heidelberg: Springer; 2001:182-193.
-
(2001)
, vol.2161
, pp. 182-193
-
-
Lancia, G.1
Bafna, V.2
Istrail, S.3
Lippert, R.4
Schwartz, R.5
-
27
-
-
35648976118
-
The diploid genome sequence of an individual human
-
17803354
-
Levy S, Sutton G, Ng PC, Feuk L, Halpern AL, Walenz BP, Axelrod N, Huang J, Kirkness EF, Denisov G, Lin Y, MacDonald JR, Pang AWC, Shago M, Stockwell TB, Tsiamouri A, Bafna V, Bansal V, Kravitz SA, Busam DA, Beeson KY, McIntosh TC, Remington KA, Abril JF, Gill J, Borman J, Rogers Y-H, Frazier ME, Scherer SW, Strausberg RL, et al. The diploid genome sequence of an individual human. PLoS Biol 2007, 5:e254. 17803354.
-
(2007)
PLoS Biol
, vol.5
, pp. e254
-
-
Levy, S.1
Sutton, G.2
Ng, P.C.3
Feuk, L.4
Halpern, A.L.5
Walenz, B.P.6
Axelrod, N.7
Huang, J.8
Kirkness, E.F.9
Denisov, G.10
Lin, Y.11
MacDonald, J.R.12
Pang, A.W.C.13
Shago, M.14
Stockwell, T.B.15
Tsiamouri, A.16
Bafna, V.17
Bansal, V.18
Kravitz, S.A.19
Busam, D.A.20
Beeson, K.Y.21
McIntosh, T.C.22
Remington, K.A.23
Abril, J.F.24
Gill, J.25
Borman, J.26
Rogers, Y.-H.27
Frazier, M.E.28
Scherer, S.W.29
Strausberg, R.L.30
more..
-
28
-
-
69749090013
-
Sequence and structural variation in a human genome uncovered by short-read, massively parallel ligation sequencing using two-base encoding
-
19546169
-
McKernan KJ, Peckham HE, Costa GL, McLaughlin SF, Fu Y, Tsung EF, Clouser CR, Duncan C, Ichikawa JK, Lee CC, Zhang Z, Ranade SS, Dimalanta ET, Hyland FC, Sokolsky TD, Zhang L, Sheridan A, Fu H, Hendrickson CL, Li B, Kotler L, Stuart JR, Malek JA, Manning JM, Antipova AA, Perez DS, Moore MP, Hayashibara KC, Lyons MR, Beaudoin RE, et al. Sequence and structural variation in a human genome uncovered by short-read, massively parallel ligation sequencing using two-base encoding. Genome Res 2009, 19:1527-1541. 19546169.
-
(2009)
Genome Res
, vol.19
, pp. 1527-1541
-
-
McKernan, K.J.1
Peckham, H.E.2
Costa, G.L.3
McLaughlin, S.F.4
Fu, Y.5
Tsung, E.F.6
Clouser, C.R.7
Duncan, C.8
Ichikawa, J.K.9
Lee, C.C.10
Zhang, Z.11
Ranade, S.S.12
Dimalanta, E.T.13
Hyland, F.C.14
Sokolsky, T.D.15
Zhang, L.16
Sheridan, A.17
Fu, H.18
Hendrickson, C.L.19
Li, B.20
Kotler, L.21
Stuart, J.R.22
Malek, J.A.23
Manning, J.M.24
Antipova, A.A.25
Perez, D.S.26
Moore, M.P.27
Hayashibara, K.C.28
Lyons, M.R.29
Beaudoin, R.E.30
more..
-
29
-
-
78651333227
-
Haplotype-resolved genome sequencing of a Gujarati Indian individual
-
21170042
-
Kitzman JO, Mackenzie AP, Adey A, Hiatt JB, Patwardhan RP, Sudmant PH, Ng SB, Alkan C, Qiu R, Eichler EE, Shendure J. Haplotype-resolved genome sequencing of a Gujarati Indian individual. Nat Biotechnol 2011, 29:59-63. 21170042.
-
(2011)
Nat Biotechnol
, vol.29
, pp. 59-63
-
-
Kitzman, J.O.1
Mackenzie, A.P.2
Adey, A.3
Hiatt, J.B.4
Patwardhan, R.P.5
Sudmant, P.H.6
Ng, S.B.7
Alkan, C.8
Qiu, R.9
Eichler, E.E.10
Shendure, J.11
-
30
-
-
80053028550
-
A comprehensively molecular haplotype-resolved genome of a European individual
-
21813624
-
Suk E-K, Schulz S, Nowick K, Duitama J, Peckham H, Lee C, McLaughlin S, Schreiber S, Palczewski S, Holloway DT, McEwen GK, Hoehe MR. A comprehensively molecular haplotype-resolved genome of a European individual. Genome Res 2011, 21:1672-1685. 21813624.
-
(2011)
Genome Res
, vol.21
, pp. 1672-1685
-
-
Suk, E.-K.1
Schulz, S.2
Nowick, K.3
Duitama, J.4
Peckham, H.5
Lee, C.6
McLaughlin, S.7
Schreiber, S.8
Palczewski, S.9
Holloway, D.T.10
McEwen, G.K.11
Hoehe, M.R.12
-
31
-
-
84858386071
-
Fosmid-based whole genome haplotyping of a HapMap trio child: evaluation of single individual haplotyping techniques
-
22102577
-
Duitama J, McEwen GK, Huebsch T, Palczewski S, Schulz S, Verstrepen K, Suk E-K, Hoehe MR. Fosmid-based whole genome haplotyping of a HapMap trio child: evaluation of single individual haplotyping techniques. Nucleic Acids Res 2012, 40:2041-2053. 22102577.
-
(2012)
Nucleic Acids Res
, vol.40
, pp. 2041-2053
-
-
Duitama, J.1
McEwen, G.K.2
Huebsch, T.3
Palczewski, S.4
Schulz, S.5
Verstrepen, K.6
Suk, E.-K.7
Hoehe, M.R.8
-
32
-
-
84875864497
-
Whole-genome haplotyping by dilution, amplification, and sequencing
-
23509297
-
Kaper F, Swamy S, Klotzle B, Munchel S, Cottrell J, Bibikova M, Chuang H-Y, Kruglyak S, Ronaghi M, Eberle MA, Fan J-B. Whole-genome haplotyping by dilution, amplification, and sequencing. Proc Natl Acad Sci U S A 2013, 110:5552-5557. 23509297.
-
(2013)
Proc Natl Acad Sci U S A
, vol.110
, pp. 5552-5557
-
-
Kaper, F.1
Swamy, S.2
Klotzle, B.3
Munchel, S.4
Cottrell, J.5
Bibikova, M.6
Chuang, H.-Y.7
Kruglyak, S.8
Ronaghi, M.9
Eberle, M.A.10
Fan, J.-B.11
-
33
-
-
0031901546
-
Expectation and variance of true and false fragment matches in DNA restriction mapping
-
9541874
-
Siegel AF, Roach JC, van den Engh G. Expectation and variance of true and false fragment matches in DNA restriction mapping. J Comput Biol 1998, 5:101-111. 9541874.
-
(1998)
J Comput Biol
, vol.5
, pp. 101-111
-
-
Siegel, A.F.1
Roach, J.C.2
van den Engh, G.3
-
34
-
-
0019206284
-
The gross anatomy of a tRNA gene cluster at region 42A of the D. melanogaster chromosome
-
6253076
-
Yen PH, Davidson N. The gross anatomy of a tRNA gene cluster at region 42A of the D. melanogaster chromosome. Cell 1980, 22:137-148. 6253076.
-
(1980)
Cell
, vol.22
, pp. 137-148
-
-
Yen, P.H.1
Davidson, N.2
-
35
-
-
84863637922
-
Accurate whole-genome sequencing and haplotyping from 10 to 20 human cells
-
22785314
-
Peters BA, Kermani BG, Sparks AB, Alferov O, Hong P, Alexeev A, Jiang Y, Dahl F, Tang YT, Haas J, Robasky K, Zaranek AW, Lee J-H, Ball MP, Peterson JE, Perazich H, Yeung G, Liu J, Chen L, Kennemer MI, Pothuraju K, Konvicka K, Tsoupko-Sitnikov M, Pant KP, Ebert JC, Nilsen GB, Baccash J, Halpern AL, Church GM, Drmanac R. Accurate whole-genome sequencing and haplotyping from 10 to 20 human cells. Nature 2012, 487:190-195. 22785314.
-
(2012)
Nature
, vol.487
, pp. 190-195
-
-
Peters, B.A.1
Kermani, B.G.2
Sparks, A.B.3
Alferov, O.4
Hong, P.5
Alexeev, A.6
Jiang, Y.7
Dahl, F.8
Tang, Y.T.9
Haas, J.10
Robasky, K.11
Zaranek, A.W.12
Lee, J.-H.13
Ball, M.P.14
Peterson, J.E.15
Perazich, H.16
Yeung, G.17
Liu, J.18
Chen, L.19
Kennemer, M.I.20
Pothuraju, K.21
Konvicka, K.22
Tsoupko-Sitnikov, M.23
Pant, K.P.24
Ebert, J.C.25
Nilsen, G.B.26
Baccash, J.27
Halpern, A.L.28
Church, G.M.29
Drmanac, R.30
more..
-
36
-
-
84898654757
-
Whole-genome haplotyping using long reads and statistical methods
-
24561555
-
Kuleshov V, Xie D, Chen R, Pushkarev D, Ma Z, Blauwkamp T, Kertesz M, Snyder M. Whole-genome haplotyping using long reads and statistical methods. Nat Biotechnol 2014, 32:261-266. 24561555.
-
(2014)
Nat Biotechnol
, vol.32
, pp. 261-266
-
-
Kuleshov, V.1
Xie, D.2
Chen, R.3
Pushkarev, D.4
Ma, Z.5
Blauwkamp, T.6
Kertesz, M.7
Snyder, M.8
-
37
-
-
77958050877
-
ReFHap: a reliable and fast algorithm for single individual haplotyping
-
ACM, Niagara Falls, New York
-
Duitama J, Huebsch T, Mcewen G, Suk E, Hoehe MR. ReFHap: a reliable and fast algorithm for single individual haplotyping. Proceedings of the First ACM international Conference on Bioinformatics and Computational Biology: August 2-4, 2010 2010, 160-169. ACM, Niagara Falls, New York.
-
(2010)
Proceedings of the First ACM international Conference on Bioinformatics and Computational Biology: August 2-4, 2010
, pp. 160-169
-
-
Duitama, J.1
Huebsch, T.2
Mcewen, G.3
Suk, E.4
Hoehe, M.R.5
-
38
-
-
84878646490
-
A fast and accurate algorithm for single individual haplotyping
-
23282221
-
Xie M, Wang J, Jiang T. A fast and accurate algorithm for single individual haplotyping. BMC Syst Biol 2012, 6(Suppl 2):S8. 23282221.
-
(2012)
BMC Syst Biol
, vol.6
, pp. S8
-
-
Xie, M.1
Wang, J.2
Jiang, T.3
-
39
-
-
84877343037
-
MixSIH: a mixture model for single individual haplotyping
-
23445519
-
Matsumoto H, Kiryu H. MixSIH: a mixture model for single individual haplotyping. BMC Genomics 2013, 14(Suppl 2):S5. 23445519.
-
(2013)
BMC Genomics
, vol.14
, pp. S5
-
-
Matsumoto, H.1
Kiryu, H.2
-
40
-
-
35348817330
-
Rapid and accurate haplotype phasing and missing-data inference for whole-genome association studies by use of localized haplotype clustering
-
17924348
-
Browning SR, Browning BL. Rapid and accurate haplotype phasing and missing-data inference for whole-genome association studies by use of localized haplotype clustering. Am J Hum Genet 2007, 81:1084-1097. 17924348.
-
(2007)
Am J Hum Genet
, vol.81
, pp. 1084-1097
-
-
Browning, S.R.1
Browning, B.L.2
-
41
-
-
33644974019
-
A fast and flexible statistical model for large-scale population genotype data: applications to inferring missing genotypes and haplotypic phase
-
16532393
-
Scheet P, Stephens M. A fast and flexible statistical model for large-scale population genotype data: applications to inferring missing genotypes and haplotypic phase. Am J Hum Genet 2006, 78:629-644. 16532393.
-
(2006)
Am J Hum Genet
, vol.78
, pp. 629-644
-
-
Scheet, P.1
Stephens, M.2
-
42
-
-
59949088494
-
Whole population, genome-wide mapping of hidden relatedness
-
18971310
-
Gusev A, Lowe JK, Stoffel M, Daly MJ, Altshuler D, Breslow JL, Friedman JM, Pe'er I. Whole population, genome-wide mapping of hidden relatedness. Genome Res 2009, 19:318-326. 18971310.
-
(2009)
Genome Res
, vol.19
, pp. 318-326
-
-
Gusev, A.1
Lowe, J.K.2
Stoffel, M.3
Daly, M.J.4
Altshuler, D.5
Breslow, J.L.6
Friedman, J.M.7
Pe'er, I.8
-
43
-
-
67651222400
-
A flexible and accurate genotype imputation method for the next generation of genome-wide association studies
-
19543373
-
Howie BN, Donnelly P, Marchini J. A flexible and accurate genotype imputation method for the next generation of genome-wide association studies. PLoS Genet 2009, 5:e1000529. 19543373.
-
(2009)
PLoS Genet
, vol.5
, pp. e1000529
-
-
Howie, B.N.1
Donnelly, P.2
Marchini, J.3
-
44
-
-
78649508578
-
MaCH: using sequence and genotype data to estimate haplotypes and unobserved genotypes
-
21058334
-
Li Y, Willer CJ, Ding J, Scheet P, Abecasis GR. MaCH: using sequence and genotype data to estimate haplotypes and unobserved genotypes. Genet Epidemiol 2010, 34:816-834. 21058334.
-
(2010)
Genet Epidemiol
, vol.34
, pp. 816-834
-
-
Li, Y.1
Willer, C.J.2
Ding, J.3
Scheet, P.4
Abecasis, G.R.5
-
45
-
-
0242691208
-
A comparison of bayesian methods for haplotype reconstruction from population genotype data
-
14574645
-
Stephens M, Donnelly P. A comparison of bayesian methods for haplotype reconstruction from population genotype data. Am J Hum Genet 2003, 73:1162-1169. 14574645.
-
(2003)
Am J Hum Genet
, vol.73
, pp. 1162-1169
-
-
Stephens, M.1
Donnelly, P.2
-
46
-
-
84871952176
-
Improved whole-chromosome phasing for disease and population genetic studies
-
23269371
-
Delaneau O, Zagury J-F, Marchini J. Improved whole-chromosome phasing for disease and population genetic studies. Nat Methods 2013, 10:5-6. 23269371.
-
(2013)
Nat Methods
, vol.10
, pp. 5-6
-
-
Delaneau, O.1
Zagury, J.-F.2
Marchini, J.3
-
47
-
-
84856478855
-
A linear complexity phasing method for thousands of genomes
-
22138821
-
Delaneau O, Marchini J, Zagury JF. A linear complexity phasing method for thousands of genomes. Nat Methods 2011, 9:179-181. 22138821.
-
(2011)
Nat Methods
, vol.9
, pp. 179-181
-
-
Delaneau, O.1
Marchini, J.2
Zagury, J.F.3
-
48
-
-
84877100867
-
An integrative variant analysis pipeline for accurate genotype/haplotype inference in population NGS data
-
23296920
-
Wang Y, Lu J, Yu J, Gibbs RA, Yu F. An integrative variant analysis pipeline for accurate genotype/haplotype inference in population NGS data. Genome Res 2013, 23:833-842. 23296920.
-
(2013)
Genome Res
, vol.23
, pp. 833-842
-
-
Wang, Y.1
Lu, J.2
Yu, J.3
Gibbs, R.A.4
Yu, F.5
-
49
-
-
84865060690
-
WinHAP: an efficient haplotype phasing algorithm based on scalable sliding windows
-
22905221
-
Cheng W, Zhou F, Nie P, Xu Y. WinHAP: an efficient haplotype phasing algorithm based on scalable sliding windows. PLoS One 2012, 7:e43163. 22905221.
-
(2012)
PLoS One
, vol.7
, pp. e43163
-
-
Cheng, W.1
Zhou, F.2
Nie, P.3
Xu, Y.4
-
50
-
-
84883478420
-
Leveraging reads that span multiple single nucleotide polymorphisms for haplotype inference from sequencing data
-
23825370
-
Yang W-Y, Hormozdiari F, Wang Z, He D, Pasaniuc B, Eskin E. Leveraging reads that span multiple single nucleotide polymorphisms for haplotype inference from sequencing data. Bioinformatics 2013, 29:2245-2252. 23825370.
-
(2013)
Bioinformatics
, vol.29
, pp. 2245-2252
-
-
Yang, W.-Y.1
Hormozdiari, F.2
Wang, Z.3
He, D.4
Pasaniuc, B.5
Eskin, E.6
-
51
-
-
84885228733
-
Haplotype estimation using sequencing reads
-
24094745
-
Delaneau O, Howie B, Cox AJ, Zagury J-F, Marchini J. Haplotype estimation using sequencing reads. Am J Hum Genet 2013, 93:687-696. 24094745.
-
(2013)
Am J Hum Genet
, vol.93
, pp. 687-696
-
-
Delaneau, O.1
Howie, B.2
Cox, A.J.3
Zagury, J.-F.4
Marchini, J.5
-
52
-
-
84867852195
-
Haplotype reconstruction using perfect phylogeny and sequence data
-
22537042
-
Efros A, Halperin E. Haplotype reconstruction using perfect phylogeny and sequence data. BMC Bioinformatics 2012, 13(Suppl 6):S3. 22537042.
-
(2012)
BMC Bioinformatics
, vol.13
, pp. S3
-
-
Efros, A.1
Halperin, E.2
-
53
-
-
84878618900
-
Complete genome phasing of family quartet by combination of genetic, physical and population-based phasing analysis
-
23741343
-
Lajugie J, Mukhopadhyay R, Schizas M, Lailler N, Fourel N, Bouhassira EE. Complete genome phasing of family quartet by combination of genetic, physical and population-based phasing analysis. PLoS One 2013, 8:e64571. 23741343.
-
(2013)
PLoS One
, vol.8
, pp. e64571
-
-
Lajugie, J.1
Mukhopadhyay, R.2
Schizas, M.3
Lailler, N.4
Fourel, N.5
Bouhassira, E.E.6
-
54
-
-
84892698555
-
Next-generation sequence assembly: four stages of data processing and computational challenges
-
24348224
-
El-Metwally S, Hamza T, Zakaria M, Helmy M. Next-generation sequence assembly: four stages of data processing and computational challenges. PLoS Comput Biol 2013, 9:e1003345. 24348224.
-
(2013)
PLoS Comput Biol
, vol.9
, pp. e1003345
-
-
El-Metwally, S.1
Hamza, T.2
Zakaria, M.3
Helmy, M.4
-
55
-
-
77956537708
-
A comparison of several algorithms for the single individual SNP haplotyping reconstruction problem
-
20624781
-
Geraci F. A comparison of several algorithms for the single individual SNP haplotyping reconstruction problem. Bioinformatics 2010, 26:2217-2225. 20624781.
-
(2010)
Bioinformatics
, vol.26
, pp. 2217-2225
-
-
Geraci, F.1
-
56
-
-
84877329202
-
A highly accurate heuristic algorithm for the haplotype assembly problem
-
23445458
-
Deng F, Cui W, Wang L. A highly accurate heuristic algorithm for the haplotype assembly problem. BMC Genomics 2013, 14(Suppl 2):S2. 23445458.
-
(2013)
BMC Genomics
, vol.14
, pp. S2
-
-
Deng, F.1
Cui, W.2
Wang, L.3
-
57
-
-
79951534673
-
Strobe sequence design for haplotype assembly
-
21342554
-
Lo C, Bashir A, Bansal V, Bafna V. Strobe sequence design for haplotype assembly. BMC Bioinformatics 2011, 12(Suppl 1):S24. 21342554.
-
(2011)
BMC Bioinformatics
, vol.12
, pp. S24
-
-
Lo, C.1
Bashir, A.2
Bansal, V.3
Bafna, V.4
-
58
-
-
84877827603
-
DNA sequencing - spanning the generations
-
Taussig DM, McGinn S, Gut IG. DNA sequencing - spanning the generations. N Biotechnol 2013, 30:366-372.
-
(2013)
N Biotechnol
, vol.30
, pp. 366-372
-
-
Taussig, D.M.1
McGinn, S.2
Gut, I.G.3
-
59
-
-
84890075448
-
Genome assembly and haplotyping with Hi-C
-
24316648
-
Korbel JO, Lee C. Genome assembly and haplotyping with Hi-C. Nat Biotechnol 2013, 31:1099-1101. 24316648.
-
(2013)
Nat Biotechnol
, vol.31
, pp. 1099-1101
-
-
Korbel, J.O.1
Lee, C.2
-
60
-
-
84890034912
-
Chromosome-scale scaffolding of de novo genome assemblies based on chromatin interactions
-
24185095
-
Burton JN, Adey A, Patwardhan RP, Qiu R, Kitzman JO, Shendure J. Chromosome-scale scaffolding of de novo genome assemblies based on chromatin interactions. Nat Biotechnol 2013, 31:1119-1125. 24185095.
-
(2013)
Nat Biotechnol
, vol.31
, pp. 1119-1125
-
-
Burton, J.N.1
Adey, A.2
Patwardhan, R.P.3
Qiu, R.4
Kitzman, J.O.5
Shendure, J.6
-
61
-
-
84890032321
-
High-throughput genome scaffolding from in vivo DNA interaction frequency
-
24270850
-
Kaplan N, Dekker J. High-throughput genome scaffolding from in vivo DNA interaction frequency. Nat Biotechnol 2013, 31:1143-1147. 24270850.
-
(2013)
Nat Biotechnol
, vol.31
, pp. 1143-1147
-
-
Kaplan, N.1
Dekker, J.2
-
62
-
-
84890023970
-
Whole-genome haplotype reconstruction using proximity-ligation and shotgun sequencing
-
24185094
-
Selvaraj SR, Dixon J, Bansal V, Ren B. Whole-genome haplotype reconstruction using proximity-ligation and shotgun sequencing. Nat Biotechnol 2013, 31:1111-1118. 24185094.
-
(2013)
Nat Biotechnol
, vol.31
, pp. 1111-1118
-
-
Selvaraj, S.R.1
Dixon, J.2
Bansal, V.3
Ren, B.4
-
63
-
-
84975795680
-
An integrated map of genetic variation from 1,092 human genomes
-
23128226
-
Abecasis GR, Auton A, Brooks LD, DePristo MA, Durbin RM, Handsaker RE, Kang HM, Marth GT, McVean GA. An integrated map of genetic variation from 1,092 human genomes. Nature 2012, 491:56-65. 23128226.
-
(2012)
Nature
, vol.491
, pp. 56-65
-
-
Abecasis, G.R.1
Auton, A.2
Brooks, L.D.3
DePristo, M.A.4
Durbin, R.M.5
Handsaker, R.E.6
Kang, H.M.7
Marth, G.T.8
McVean, G.A.9
-
64
-
-
77951799158
-
Analysis of genetic inheritance in a family quartet by whole-genome sequencing
-
20220176
-
Roach JC, Glusman G, Smit AFA, Huff CD, Hubley R, Shannon PT, Rowen L, Pant KP, Goodman N, Bamshad M, Shendure J, Drmanac R, Jorde LB, Hood L, Galas DJ. Analysis of genetic inheritance in a family quartet by whole-genome sequencing. Science 2010, 328:636-639. 20220176.
-
(2010)
Science
, vol.328
, pp. 636-639
-
-
Roach, J.C.1
Glusman, G.2
Smit, A.F.A.3
Huff, C.D.4
Hubley, R.5
Shannon, P.T.6
Rowen, L.7
Pant, K.P.8
Goodman, N.9
Bamshad, M.10
Shendure, J.11
Drmanac, R.12
Jorde, L.B.13
Hood, L.14
Galas, D.J.15
-
65
-
-
33751103455
-
Multipoint linkage analysis with many multiallelic or dense diallelic markers: Markov chain-Monte Carlo provides practical approaches for genome scans on general pedigrees
-
17033961
-
Wijsman EM, Rothstein JH, Thompson EA. Multipoint linkage analysis with many multiallelic or dense diallelic markers: Markov chain-Monte Carlo provides practical approaches for genome scans on general pedigrees. Am J Hum Genet 2006, 79:846-858. 17033961.
-
(2006)
Am J Hum Genet
, vol.79
, pp. 846-858
-
-
Wijsman, E.M.1
Rothstein, J.H.2
Thompson, E.A.3
-
66
-
-
80053447840
-
Phased whole-genome genetic risk in a family quartet using a major allele reference sequence
-
21935354
-
Dewey FE, Chen R, Cordero SP, Ormond KE, Caleshu C, Karczewski KJ, Whirl-Carrillo M, Wheeler MT, Dudley JT, Byrnes JK, Cornejo OE, Knowles JW, Woon M, Sangkuhl K, Gong L, Thorn CF, Hebert JM, Capriotti E, David SP, Pavlovic A, West A, Thakuria JV, Ball MP, Zaranek AW, Rehm HL, Church GM, West JS, Bustamante CD, Snyder M, Altman RB, et al. Phased whole-genome genetic risk in a family quartet using a major allele reference sequence. PLoS Genet 2011, 7:e1002280. 21935354.
-
(2011)
PLoS Genet
, vol.7
, pp. e1002280
-
-
Dewey, F.E.1
Chen, R.2
Cordero, S.P.3
Ormond, K.E.4
Caleshu, C.5
Karczewski, K.J.6
Whirl-Carrillo, M.7
Wheeler, M.T.8
Dudley, J.T.9
Byrnes, J.K.10
Cornejo, O.E.11
Knowles, J.W.12
Woon, M.13
Sangkuhl, K.14
Gong, L.15
Thorn, C.F.16
Hebert, J.M.17
Capriotti, E.18
David, S.P.19
Pavlovic, A.20
West, A.21
Thakuria, J.V.22
Ball, M.P.23
Zaranek, A.W.24
Rehm, H.L.25
Church, G.M.26
West, J.S.27
Bustamante, C.D.28
Snyder, M.29
Altman, R.B.30
more..
-
67
-
-
57249114505
-
SNAP: a web-based tool for identification and annotation of proxy SNPs using HapMap
-
18974171
-
Johnson AD, Handsaker RE, Pulit SL, Nizzari MM, O'Donnell CJ, de Bakker PIW. SNAP: a web-based tool for identification and annotation of proxy SNPs using HapMap. Bioinformatics 2008, 24:2938-2939. 18974171.
-
(2008)
Bioinformatics
, vol.24
, pp. 2938-2939
-
-
Johnson, A.D.1
Handsaker, R.E.2
Pulit, S.L.3
Nizzari, M.M.4
O'Donnell, C.J.5
de Bakker, P.I.W.6
-
68
-
-
80053019891
-
Haplotype phasing: existing methods and new developments
-
21921926
-
Browning SR, Browning BL. Haplotype phasing: existing methods and new developments. Nat Rev Genet 2011, 12:703-714. 21921926.
-
(2011)
Nat Rev Genet
, vol.12
, pp. 703-714
-
-
Browning, S.R.1
Browning, B.L.2
-
69
-
-
84975742565
-
A map of human genome variation from population-scale sequencing
-
20981092
-
Abecasis G, Altschuler D, Auton A, Brooks L, Durbin R, Gibbs R, Hurles M, McVean G. A map of human genome variation from population-scale sequencing. Nature 2010, 467:1061-1073. 20981092.
-
(2010)
Nature
, vol.467
, pp. 1061-1073
-
-
Abecasis, G.1
Altschuler, D.2
Auton, A.3
Brooks, L.4
Durbin, R.5
Gibbs, R.6
Hurles, M.7
McVean, G.8
-
70
-
-
0025269067
-
Inference of haplotypes from PCR-amplified samples of diploid populations
-
2108305
-
Clark AG. Inference of haplotypes from PCR-amplified samples of diploid populations. Mol Biol Evol 1990, 7:111-122. 2108305.
-
(1990)
Mol Biol Evol
, vol.7
, pp. 111-122
-
-
Clark, A.G.1
-
71
-
-
84856478855
-
A linear complexity phasing method for thousands of genomes
-
22138821
-
Zagury J-F, Marchini J, Delaneau O. A linear complexity phasing method for thousands of genomes. Nat Methods 2011, 9:179-181. 22138821.
-
(2011)
Nat Methods
, vol.9
, pp. 179-181
-
-
Zagury, J.-F.1
Marchini, J.2
Delaneau, O.3
-
72
-
-
84901370399
-
A general approach for haplotype phasing across the full spectrum of relatedness
-
24743097
-
O'Connell J, Gurdasani D, Delaneau O, Pirastu N, Ulivi S, Cocca M, Traglia M, Huang J, Huffman JE, Rudan I, McQuillan R, Fraser RM, Campbell H, Polasek O, Asiki G, Ekoru K, Hayward C, Wright AF, Vitart V, Navarro P, Zagury J-F, Wilson JF, Toniolo D, Gasparini P, Soranzo N, Sandhu MS, Marchini J. A general approach for haplotype phasing across the full spectrum of relatedness. PLoS Genet 2014, 10:e1004234. 24743097.
-
(2014)
PLoS Genet
, vol.10
, pp. e1004234
-
-
O'Connell, J.1
Gurdasani, D.2
Delaneau, O.3
Pirastu, N.4
Ulivi, S.5
Cocca, M.6
Traglia, M.7
Huang, J.8
Huffman, J.E.9
Rudan, I.10
McQuillan, R.11
Fraser, R.M.12
Campbell, H.13
Polasek, O.14
Asiki, G.15
Ekoru, K.16
Hayward, C.17
Wright, A.F.18
Vitart, V.19
Navarro, P.20
Zagury, J.-F.21
Wilson, J.F.22
Toniolo, D.23
Gasparini, P.24
Soranzo, N.25
Sandhu, M.S.26
Marchini, J.27
more..
-
73
-
-
79851497145
-
A fast, powerful method for detecting identity by descent
-
21310274
-
Browning BL, Browning SR. A fast, powerful method for detecting identity by descent. Am J Hum Genet 2011, 88:173-182. 21310274.
-
(2011)
Am J Hum Genet
, vol.88
, pp. 173-182
-
-
Browning, B.L.1
Browning, S.R.2
-
74
-
-
43849089108
-
2SNP: scalable phasing method for trios and unrelated individuals
-
18451440
-
Brinza D, Zelikovsky A. 2SNP: scalable phasing method for trios and unrelated individuals. IEEE/ACM Trans Comput Biol Bioinform 2008, 5:313-318. 18451440.
-
(2008)
IEEE/ACM Trans Comput Biol Bioinform
, vol.5
, pp. 313-318
-
-
Brinza, D.1
Zelikovsky, A.2
-
75
-
-
84861819490
-
Detection of identity by descent using next-generation whole genome sequencing data
-
22672699
-
Su S-Y, Kasberger J, Baranzini S, Byerley W, Liao W, Oksenberg J, Sherr E, Jorgenson E. Detection of identity by descent using next-generation whole genome sequencing data. BMC Bioinformatics 2012, 13:121. 22672699.
-
(2012)
BMC Bioinformatics
, vol.13
, pp. 121
-
-
Su, S.-Y.1
Kasberger, J.2
Baranzini, S.3
Byerley, W.4
Liao, W.5
Oksenberg, J.6
Sherr, E.7
Jorgenson, E.8
-
76
-
-
84871973138
-
High-resolution whole-genome haplotyping using limited seed data
-
23269372
-
Rao W, Ma Y, Ma L, Zhao J, Li Q, Gu W, Zhang K, Bond VC, Song Q. High-resolution whole-genome haplotyping using limited seed data. Nat Methods 2013, 10:6-7. 23269372.
-
(2013)
Nat Methods
, vol.10
, pp. 6-7
-
-
Rao, W.1
Ma, Y.2
Ma, L.3
Zhao, J.4
Li, Q.5
Gu, W.6
Zhang, K.7
Bond, V.C.8
Song, Q.9
-
77
-
-
50449089222
-
Detection of sharing by descent, long-range phasing and haplotype imputation
-
19165921
-
Kong A, Masson G, Frigge ML, Gylfason A, Zusmanovich P, Thorleifsson G, Olason PI, Ingason A, Steinberg S, Rafnar T, Sulem P, Mouy M, Jonsson F, Thorsteinsdottir U, Gudbjartsson DF, Stefansson H, Stefansson K. Detection of sharing by descent, long-range phasing and haplotype imputation. Nat Genet 2008, 40:1068-1075. 19165921.
-
(2008)
Nat Genet
, vol.40
, pp. 1068-1075
-
-
Kong, A.1
Masson, G.2
Frigge, M.L.3
Gylfason, A.4
Zusmanovich, P.5
Thorleifsson, G.6
Olason, P.I.7
Ingason, A.8
Steinberg, S.9
Rafnar, T.10
Sulem, P.11
Mouy, M.12
Jonsson, F.13
Thorsteinsdottir, U.14
Gudbjartsson, D.F.15
Stefansson, H.16
Stefansson, K.17
-
78
-
-
84875379767
-
Hap-seqX: expedite algorithm for haplotype phasing with imputation using sequence data
-
23269365
-
He D, Eskin E. Hap-seqX: expedite algorithm for haplotype phasing with imputation using sequence data. Gene 2013, 518:2-6. 23269365.
-
(2013)
Gene
, vol.518
, pp. 2-6
-
-
He, D.1
Eskin, E.2
-
79
-
-
84884311983
-
Major histocompatibility complex genomics and human disease
-
23875801
-
Trowsdale J, Knight JC. Major histocompatibility complex genomics and human disease. Annu Rev Genomics Hum Genet 2013, 14:301-323. 23875801.
-
(2013)
Annu Rev Genomics Hum Genet
, vol.14
, pp. 301-323
-
-
Trowsdale, J.1
Knight, J.C.2
-
80
-
-
84862118837
-
Noninvasive whole-genome sequencing of a human fetus
-
137ra76. 22674554
-
Kitzman JO, Snyder MW, Ventura M, Lewis AP, Qiu R, Simmons LE, Gammill HS, Rubens CE, Santillan DA, Murray JC, Tabor HK, Bamshad MJ, Eichler EE, Shendure J. Noninvasive whole-genome sequencing of a human fetus. Sci Transl Med 2012, 4:137ra76. 22674554.
-
(2012)
Sci Transl Med
, vol.4
-
-
Kitzman, J.O.1
Snyder, M.W.2
Ventura, M.3
Lewis, A.P.4
Qiu, R.5
Simmons, L.E.6
Gammill, H.S.7
Rubens, C.E.8
Santillan, D.A.9
Murray, J.C.10
Tabor, H.K.11
Bamshad, M.J.12
Eichler, E.E.13
Shendure, J.14
-
81
-
-
0141688336
-
On issues of instance selection
-
Liu H, Motoda H. On issues of instance selection. Data Min Knowl Discov 2002, 6:115-130.
-
(2002)
Data Min Knowl Discov
, vol.6
, pp. 115-130
-
-
Liu, H.1
Motoda, H.2
-
82
-
-
84883674186
-
On the design of clone-based haplotyping
-
24028704
-
Lo C, Liu R, Lee J, Robasky K, Byrne S, Lucchesi C, Aach J, Church G, Bafna V, Zhang K. On the design of clone-based haplotyping. Genome Biol 2013, 14:R100. 24028704.
-
(2013)
Genome Biol
, vol.14
, pp. R100
-
-
Lo, C.1
Liu, R.2
Lee, J.3
Robasky, K.4
Byrne, S.5
Lucchesi, C.6
Aach, J.7
Church, G.8
Bafna, V.9
Zhang, K.10
-
83
-
-
84891809093
-
ClinVar: public archive of relationships among sequence variation and human phenotype
-
24234437
-
Landrum MJ, Lee JM, Riley GR, Jang W, Rubinstein WS, Church DM, Maglott DR. ClinVar: public archive of relationships among sequence variation and human phenotype. Nucleic Acids Res 2014, 42(Database issue):D980-D985. 24234437.
-
(2014)
Nucleic Acids Res
, vol.42
, Issue.DATABASE ISSUE
, pp. D980-D985
-
-
Landrum, M.J.1
Lee, J.M.2
Riley, G.R.3
Jang, W.4
Rubinstein, W.S.5
Church, D.M.6
Maglott, D.R.7
-
84
-
-
77953154584
-
Cerebral palsy in siblings caused by compound heterozygous mutations in the gene encoding protein C
-
20187890
-
Fong CYI, Mumford AD, Likeman MJ, Jardine PE. Cerebral palsy in siblings caused by compound heterozygous mutations in the gene encoding protein C. Dev Med Child Neurol 2010, 52:489-493. 20187890.
-
(2010)
Dev Med Child Neurol
, vol.52
, pp. 489-493
-
-
Fong, C.Y.I.1
Mumford, A.D.2
Likeman, M.J.3
Jardine, P.E.4
-
85
-
-
77950475726
-
Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy
-
20220177
-
Lupski JR, Reid JG, Gonzaga-Jauregui C, Rio Deiros D, Chen DCY, Nazareth L, Bainbridge M, Dinh H, Jing C, Wheeler DA, McGuire AL, Zhang F, Stankiewicz P, Halperin JJ, Yang C, Gehman C, Guo D, Irikat RK, Tom W, Fantin NJ, Muzny DM, Gibbs RA. Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy. N Engl J Med 2010, 362:1181-1191. 20220177.
-
(2010)
N Engl J Med
, vol.362
, pp. 1181-1191
-
-
Lupski, J.R.1
Reid, J.G.2
Gonzaga-Jauregui, C.3
Rio Deiros, D.4
Chen, D.C.Y.5
Nazareth, L.6
Bainbridge, M.7
Dinh, H.8
Jing, C.9
Wheeler, D.A.10
McGuire, A.L.11
Zhang, F.12
Stankiewicz, P.13
Halperin, J.J.14
Yang, C.15
Gehman, C.16
Guo, D.17
Irikat, R.K.18
Tom, W.19
Fantin, N.J.20
Muzny, D.M.21
Gibbs, R.A.22
more..
-
86
-
-
77957724879
-
Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy
-
20920668
-
McLaughlin HM, Sakaguchi R, Liu C, Igarashi T, Pehlivan D, Chu K, Iyer R, Cruz P, Cherukuri PF, Hansen NF, Mullikin JC, Biesecker LG, Wilson TE, Ionasescu V, Nicholson G, Searby C, Talbot K, Vance JM, Züchner S, Szigeti K, Lupski JR, Hou Y-M, Green ED, Antonellis A. Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy. Am J Hum Genet 2010, 87:560-566. 20920668.
-
(2010)
Am J Hum Genet
, vol.87
, pp. 560-566
-
-
McLaughlin, H.M.1
Sakaguchi, R.2
Liu, C.3
Igarashi, T.4
Pehlivan, D.5
Chu, K.6
Iyer, R.7
Cruz, P.8
Cherukuri, P.F.9
Hansen, N.F.10
Mullikin, J.C.11
Biesecker, L.G.12
Wilson, T.E.13
Ionasescu, V.14
Nicholson, G.15
Searby, C.16
Talbot, K.17
Vance, J.M.18
Züchner, S.19
Szigeti, K.20
Lupski, J.R.21
Hou, Y.-M.22
Green, E.D.23
Antonellis, A.24
more..
-
87
-
-
17244383525
-
A common sex-dependent mutation in a RET enhancer underlies Hirschsprung disease risk
-
15829955
-
Emison ES, McCallion AS, Kashuk CS, Bush RT, Grice E, Lin S, Portnoy ME, Cutler DJ, Green ED, Chakravarti A. A common sex-dependent mutation in a RET enhancer underlies Hirschsprung disease risk. Nature 2005, 434:857-863. 15829955.
-
(2005)
Nature
, vol.434
, pp. 857-863
-
-
Emison, E.S.1
McCallion, A.S.2
Kashuk, C.S.3
Bush, R.T.4
Grice, E.5
Lin, S.6
Portnoy, M.E.7
Cutler, D.J.8
Green, E.D.9
Chakravarti, A.10
-
88
-
-
29644434290
-
Evaluation of the RET regulatory landscape reveals the biological relevance of a HSCR-implicated enhancer
-
16269442
-
Grice EA, Rochelle ES, Green ED, Chakravarti A, McCallion AS. Evaluation of the RET regulatory landscape reveals the biological relevance of a HSCR-implicated enhancer. Hum Mol Genet 2005, 14:3837-3845. 16269442.
-
(2005)
Hum Mol Genet
, vol.14
, pp. 3837-3845
-
-
Grice, E.A.1
Rochelle, E.S.2
Green, E.D.3
Chakravarti, A.4
McCallion, A.S.5
-
89
-
-
64149102324
-
Management of gene promoter mutations in molecular diagnostics
-
19246615
-
De Vooght KMK, van Wijk R, van Solinge WW. Management of gene promoter mutations in molecular diagnostics. Clin Chem 2009, 55:698-708. 19246615.
-
(2009)
Clin Chem
, vol.55
, pp. 698-708
-
-
De Vooght, K.M.K.1
van Wijk, R.2
van Solinge, W.W.3
-
90
-
-
0029832180
-
Identification of a mutation in a GATA binding site of the platelet glycoprotein Ibbeta promoter resulting in the Bernard-Soulier syndrome
-
8703016
-
Ludlow LB, Schick BP, Budarf ML, Driscoll DA, Zackai EH, Cohen A, Konkle BA. Identification of a mutation in a GATA binding site of the platelet glycoprotein Ibbeta promoter resulting in the Bernard-Soulier syndrome. J Biol Chem 1996, 271:22076-22080. 8703016.
-
(1996)
J Biol Chem
, vol.271
, pp. 22076-22080
-
-
Ludlow, L.B.1
Schick, B.P.2
Budarf, M.L.3
Driscoll, D.A.4
Zackai, E.H.5
Cohen, A.6
Konkle, B.A.7
-
91
-
-
33947434129
-
Haplotypes, loss of heterozygosity, and expression levels of glycine N-methyltransferase in prostate cancer
-
17332283
-
Huang Y-C, Lee C-M, Chen M, Chung M-Y, Chang Y-H, Huang WJ-S, Ho DM-T, Pan C-C, Wu TT, Yang S, Lin M-W, Hsieh J-T, Chen Y-MA. Haplotypes, loss of heterozygosity, and expression levels of glycine N-methyltransferase in prostate cancer. Clin Cancer Res 2007, 13:1412-1420. 17332283.
-
(2007)
Clin Cancer Res
, vol.13
, pp. 1412-1420
-
-
Huang, Y.-C.1
Lee, C.-M.2
Chen, M.3
Chung, M.-Y.4
Chang, Y.-H.5
Huang, W.J.-S.6
Ho, D.M.-T.7
Pan, C.-C.8
Wu, T.T.9
Yang, S.10
Lin, M.-W.11
Hsieh, J.-T.12
Chen, Y.-M.A.13
-
92
-
-
33749137515
-
A high-resolution HLA and SNP haplotype map for disease association studies in the extended human MHC
-
16998491
-
De Bakker PIW, McVean G, Sabeti PC, Miretti MM, Green T, Marchini J, Ke X, Monsuur AJ, Whittaker P, Delgado M, Morrison J, Richardson A, Walsh EC, Gao X, Galver L, Hart J, Hafler DA, Pericak-Vance M, Todd JA, Daly MJ, Trowsdale J, Wijmenga C, Vyse TJ, Beck S, Murray SS, Carrington M, Gregory S, Deloukas P, Rioux JD. A high-resolution HLA and SNP haplotype map for disease association studies in the extended human MHC. Nat Genet 2006, 38:1166-1172. 16998491.
-
(2006)
Nat Genet
, vol.38
, pp. 1166-1172
-
-
De Bakker, P.I.W.1
McVean, G.2
Sabeti, P.C.3
Miretti, M.M.4
Green, T.5
Marchini, J.6
Ke, X.7
Monsuur, A.J.8
Whittaker, P.9
Delgado, M.10
Morrison, J.11
Richardson, A.12
Walsh, E.C.13
Gao, X.14
Galver, L.15
Hart, J.16
Hafler, D.A.17
Pericak-Vance, M.18
Todd, J.A.19
Daly, M.J.20
Trowsdale, J.21
Wijmenga, C.22
Vyse, T.J.23
Beck, S.24
Murray, S.S.25
Carrington, M.26
Gregory, S.27
Deloukas, P.28
Rioux, J.D.29
more..
-
93
-
-
33846689370
-
MHC haplotype matching for unrelated hematopoietic cell transplantation
-
17378697
-
Petersdorf EW, Malkki M, Gooley TA, Martin PJ, Guo Z. MHC haplotype matching for unrelated hematopoietic cell transplantation. PLoS Med 2007, 4:e8. 17378697.
-
(2007)
PLoS Med
, vol.4
, pp. e8
-
-
Petersdorf, E.W.1
Malkki, M.2
Gooley, T.A.3
Martin, P.J.4
Guo, Z.5
-
94
-
-
84925884161
-
Clinical applications of sequencing take center stage
-
23651925
-
Glusman G. Clinical applications of sequencing take center stage. Genome Biol 2013, 14:303. 23651925.
-
(2013)
Genome Biol
, vol.14
, pp. 303
-
-
Glusman, G.1
-
95
-
-
35349012592
-
Genome-wide detection and characterization of positive selection in human populations
-
17943131
-
Sabeti PC, Varilly P, Fry B, Lohmueller J, Hostetter E, Cotsapas C, Xie X, Byrne EH, McCarroll SA, Gaudet R, Schaffner SF, Lander ES, Frazer KA, Ballinger DG, Cox DR, Hinds DA, Stuve LL, Gibbs RA, Belmont JW, Boudreau A, Hardenbol P, Leal SM, Pasternak S, Wheeler DA, Willis TD, Yu F, Yang H, Zeng C, Gao Y, Hu H, et al. Genome-wide detection and characterization of positive selection in human populations. Nature 2007, 449:913-918. 17943131.
-
(2007)
Nature
, vol.449
, pp. 913-918
-
-
Sabeti, P.C.1
Varilly, P.2
Fry, B.3
Lohmueller, J.4
Hostetter, E.5
Cotsapas, C.6
Xie, X.7
Byrne, E.H.8
McCarroll, S.A.9
Gaudet, R.10
Schaffner, S.F.11
Lander, E.S.12
Frazer, K.A.13
Ballinger, D.G.14
Cox, D.R.15
Hinds, D.A.16
Stuve, L.L.17
Gibbs, R.A.18
Belmont, J.W.19
Boudreau, A.20
Hardenbol, P.21
Leal, S.M.22
Pasternak, S.23
Wheeler, D.A.24
Willis, T.D.25
Yu, F.26
Yang, H.27
Zeng, C.28
Gao, Y.29
Hu, H.30
more..
-
96
-
-
77952136530
-
A draft sequence of the Neandertal genome
-
20448178
-
Green RE, Krause J, Briggs AW, Maricic T, Stenzel U, Kircher M, Patterson N, Li H, Zhai W, Fritz MH-Y, Hansen NF, Durand EY, Malaspinas A-S, Jensen JD, Marques-Bonet T, Alkan C, Prüfer K, Meyer M, Burbano HA, Good JM, Schultz R, Aximu-Petri A, Butthof A, Höber B, Höffner B, Siegemund M, Weihmann A, Nusbaum C, Lander ES, Russ C, et al. A draft sequence of the Neandertal genome. Science 2010, 328:710-722. 20448178.
-
(2010)
Science
, vol.328
, pp. 710-722
-
-
Green, R.E.1
Krause, J.2
Briggs, A.W.3
Maricic, T.4
Stenzel, U.5
Kircher, M.6
Patterson, N.7
Li, H.8
Zhai, W.9
Fritz, M.H.-Y.10
Hansen, N.F.11
Durand, E.Y.12
Malaspinas, A.-S.13
Jensen, J.D.14
Marques-Bonet, T.15
Alkan, C.16
Prüfer, K.17
Meyer, M.18
Burbano, H.A.19
Good, J.M.20
Schultz, R.21
Aximu-Petri, A.22
Butthof, A.23
Höber, B.24
Höffner, B.25
Siegemund, M.26
Weihmann, A.27
Nusbaum, C.28
Lander, E.S.29
Russ, C.30
more..
-
97
-
-
84857477622
-
Inference of population structure using dense haplotype data
-
22291602
-
Lawson DJ, Hellenthal G, Myers S, Falush D. Inference of population structure using dense haplotype data. PLoS Genet 2012, 8:e1002453. 22291602.
-
(2012)
PLoS Genet
, vol.8
, pp. e1002453
-
-
Lawson, D.J.1
Hellenthal, G.2
Myers, S.3
Falush, D.4
-
98
-
-
2342622086
-
Methods for high-density admixture mapping of disease genes
-
15088269
-
Patterson N, Hattangadi N, Lane B, Lohmueller KE, Hafler DA, Oksenberg JR, Hauser SL, Smith MW, O'Brien SJ, Altshuler D, Daly MJ, Reich D. Methods for high-density admixture mapping of disease genes. Am J Hum Genet 2004, 74:979-1000. 15088269.
-
(2004)
Am J Hum Genet
, vol.74
, pp. 979-1000
-
-
Patterson, N.1
Hattangadi, N.2
Lane, B.3
Lohmueller, K.E.4
Hafler, D.A.5
Oksenberg, J.R.6
Hauser, S.L.7
Smith, M.W.8
O'Brien, S.J.9
Altshuler, D.10
Daly, M.J.11
Reich, D.12
-
99
-
-
34347344976
-
A new multipoint method for genome-wide association studies by imputation of genotypes
-
17572673
-
Marchini J, Howie B, Myers S, McVean G, Donnelly P. A new multipoint method for genome-wide association studies by imputation of genotypes. Nat Genet 2007, 39:906-913. 17572673.
-
(2007)
Nat Genet
, vol.39
, pp. 906-913
-
-
Marchini, J.1
Howie, B.2
Myers, S.3
McVean, G.4
Donnelly, P.5
-
100
-
-
77950790709
-
EMINIM: an adaptive and memory-efficient algorithm for genotype imputation
-
20377463
-
Kang HM, Zaitlen NA, Eskin E. EMINIM: an adaptive and memory-efficient algorithm for genotype imputation. J Comput Biol 2010, 17:547-560. 20377463.
-
(2010)
J Comput Biol
, vol.17
, pp. 547-560
-
-
Kang, H.M.1
Zaitlen, N.A.2
Eskin, E.3
-
101
-
-
18444369013
-
The structure of haplotype blocks in the human genome
-
12029063
-
Gabriel SB, Schaffner SF, Nguyen H, Moore JM, Roy J, Blumenstiel B, Higgins J, DeFelice M, Lochner A, Faggart M, Liu-Cordero SN, Rotimi C, Adeyemo A, Cooper R, Ward R, Lander ES, Daly MJ, Altshuler D. The structure of haplotype blocks in the human genome. Science 2002, 296:2225-2229. 12029063.
-
(2002)
Science
, vol.296
, pp. 2225-2229
-
-
Gabriel, S.B.1
Schaffner, S.F.2
Nguyen, H.3
Moore, J.M.4
Roy, J.5
Blumenstiel, B.6
Higgins, J.7
DeFelice, M.8
Lochner, A.9
Faggart, M.10
Liu-Cordero, S.N.11
Rotimi, C.12
Adeyemo, A.13
Cooper, R.14
Ward, R.15
Lander, E.S.16
Daly, M.J.17
Altshuler, D.18
-
102
-
-
43749124626
-
Association methods in human genetics
-
18450062
-
Langefeld CD, Fingerlin TE. Association methods in human genetics. Methods Mol Biol 2007, 404:431-460. 18450062.
-
(2007)
Methods Mol Biol
, vol.404
, pp. 431-460
-
-
Langefeld, C.D.1
Fingerlin, T.E.2
-
103
-
-
40749141541
-
Haplotype-association analysis
-
18358327
-
Liu N, Zhang K, Zhao H. Haplotype-association analysis. Adv Genet 2008, 60:335-405. 18358327.
-
(2008)
Adv Genet
, vol.60
, pp. 335-405
-
-
Liu, N.1
Zhang, K.2
Zhao, H.3
-
104
-
-
84888017505
-
Worldwide population variation and haplotype analysis at the serotonin transporter gene SLC6A4 and implications for association studies
-
23510579
-
Murdoch JD, Speed WC, Pakstis AJ, Heffelfinger CE, Kidd KK. Worldwide population variation and haplotype analysis at the serotonin transporter gene SLC6A4 and implications for association studies. Biol Psychiatry 2013, 74:879-889. 23510579.
-
(2013)
Biol Psychiatry
, vol.74
, pp. 879-889
-
-
Murdoch, J.D.1
Speed, W.C.2
Pakstis, A.J.3
Heffelfinger, C.E.4
Kidd, K.K.5
-
105
-
-
77950833803
-
Variation in transcription factor binding among humans
-
20299548
-
Kasowski M, Grubert F, Heffelfinger C, Hariharan M, Asabere A, Waszak SM, Habegger L, Rozowsky J, Shi M, Urban AE, Hong M-Y, Karczewski KJ, Huber W, Weissman SM, Gerstein MB, Korbel JO, Snyder M. Variation in transcription factor binding among humans. Science 2010, 328:232-235. 20299548.
-
(2010)
Science
, vol.328
, pp. 232-235
-
-
Kasowski, M.1
Grubert, F.2
Heffelfinger, C.3
Hariharan, M.4
Asabere, A.5
Waszak, S.M.6
Habegger, L.7
Rozowsky, J.8
Shi, M.9
Urban, A.E.10
Hong, M.-Y.11
Karczewski, K.J.12
Huber, W.13
Weissman, S.M.14
Gerstein, M.B.15
Korbel, J.O.16
Snyder, M.17
-
106
-
-
78651276230
-
Allele-specific DNA methylation: beyond imprinting
-
20855472
-
Tycko B. Allele-specific DNA methylation: beyond imprinting. Hum Mol Genet 2010, 19:R210-R220. 20855472.
-
(2010)
Hum Mol Genet
, vol.19
, pp. R210-R220
-
-
Tycko, B.1
-
107
-
-
0842345574
-
Frequency and parental origin of de novo APC mutations in familial adenomatous polyposis
-
14523376
-
Aretz S, Uhlhaas S, Caspari R, Mangold E, Pagenstecher C, Propping P, Friedl W. Frequency and parental origin of de novo APC mutations in familial adenomatous polyposis. Eur J Hum Genet 2004, 12:52-58. 14523376.
-
(2004)
Eur J Hum Genet
, vol.12
, pp. 52-58
-
-
Aretz, S.1
Uhlhaas, S.2
Caspari, R.3
Mangold, E.4
Pagenstecher, C.5
Propping, P.6
Friedl, W.7
-
108
-
-
0027856026
-
Criterion for the completeness of large-scale physical maps of DNA
-
7956047
-
Olson MV, Green P. Criterion for the completeness of large-scale physical maps of DNA. Cold Spring Harb Symp Quant Biol 1993, 58:349-355. 7956047.
-
(1993)
Cold Spring Harb Symp Quant Biol
, vol.58
, pp. 349-355
-
-
Olson, M.V.1
Green, P.2
-
109
-
-
0031978181
-
Base-calling of automated sequencer traces using phred, II. Error probabilities
-
9521922
-
Ewing B, Green P. Base-calling of automated sequencer traces using phred, II. Error probabilities. Genome Res 1998, 8:186-194. 9521922.
-
(1998)
Genome Res
, vol.8
, pp. 186-194
-
-
Ewing, B.1
Green, P.2
-
110
-
-
0036842635
-
Haplotype inference in random population samples
-
12386835
-
Lin S, Cutler DJ, Zwick ME, Chakravarti A. Haplotype inference in random population samples. Am J Hum Genet 2002, 71:1129-1137. 12386835.
-
(2002)
Am J Hum Genet
, vol.71
, pp. 1129-1137
-
-
Lin, S.1
Cutler, D.J.2
Zwick, M.E.3
Chakravarti, A.4
-
111
-
-
66349130325
-
Phasing genotypes using a hidden Markov model
-
John Wiley & Sons, Inc, Hoboken, NJ, Măndoiu II, Zelikovsky A
-
Rastas P, Koivisto M, Mannila H, Ukkonen E. Phasing genotypes using a hidden Markov model. Bioinformics Algorithms :Techniques and Applications 2008, 355-362. John Wiley & Sons, Inc, Hoboken, NJ, Măndoiu II, Zelikovsky A.
-
(2008)
Bioinformics Algorithms :Techniques and Applications
, pp. 355-362
-
-
Rastas, P.1
Koivisto, M.2
Mannila, H.3
Ukkonen, E.4
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