-
1
-
-
66349113579
-
A graphical algorithm for fast computation of identity coefficients and generalized kinship coefficients
-
Abney M. 2009. A graphical algorithm for fast computation of identity coefficients and generalized kinship coefficients. Bioinformatics 25:1561-1563.
-
(2009)
Bioinformatics
, vol.25
, pp. 1561-1563
-
-
Abney, M.1
-
3
-
-
78751676360
-
Natural selection and the distribution of identity-by-descent in the human genome
-
Albrechtsen A, Moltke I, Nielsen R. 2010. Natural selection and the distribution of identity-by-descent in the human genome. Genetics 186:295-308.
-
(2010)
Genetics
, vol.186
, pp. 295-308
-
-
Albrechtsen, A.1
Moltke, I.2
Nielsen, R.3
-
4
-
-
31744439285
-
Evaluating potential for whole-genome studies in Kosrae, an isolated population in Micronesia
-
Bonnen PE, Pe'er I, Plenge RM, Salit J, Lowe JK, Shapero MH, Lifton RP, Breslow JL, Daly MJ, Reich DE, Jones KW, Stoffel M, Altshuler D, Friedman JM. 2006. Evaluating potential for whole-genome studies in Kosrae, an isolated population in Micronesia. Nat Genet 38:214-217.
-
(2006)
Nat Genet
, vol.38
, pp. 214-217
-
-
Bonnen, P.E.1
Pe'er, I.2
Plenge, R.M.3
Salit, J.4
Lowe, J.K.5
Shapero, M.H.6
Lifton, R.P.7
Breslow, J.L.8
Daly, M.J.9
Reich, D.E.10
Jones, K.W.11
Stoffel, M.12
Altshuler, D.13
Friedman, J.M.14
-
5
-
-
79851497145
-
A fast, powerful method for detecting identity by descent
-
Browning BL, Browning SR. 2011. A fast, powerful method for detecting identity by descent. Am J Hum Genet 88:173-182.
-
(2011)
Am J Hum Genet
, vol.88
, pp. 173-182
-
-
Browning, B.L.1
Browning, S.R.2
-
6
-
-
84859588748
-
Detecting rare variant associations by identity-by-descent mapping in case-control studies
-
Browning SR, Thompson EA. 2012. Detecting rare variant associations by identity-by-descent mapping in case-control studies. Genetics 190:1521-1531.
-
(2012)
Genetics
, vol.190
, pp. 1521-1531
-
-
Browning, S.R.1
Thompson, E.A.2
-
7
-
-
3042591234
-
Linkage disequilibrium mapping via cladistic analysis of single-nucleotide polymorphism haplotypes
-
Durrant C, Zondervan KT, Cardon LR, Hunt S, Deloukas P, Morris AP. 2004. Linkage disequilibrium mapping via cladistic analysis of single-nucleotide polymorphism haplotypes. Am J Hum Genet 75:35-43.
-
(2004)
Am J Hum Genet
, vol.75
, pp. 35-43
-
-
Durrant, C.1
Zondervan, K.T.2
Cardon, L.R.3
Hunt, S.4
Deloukas, P.5
Morris, A.P.6
-
8
-
-
79960408008
-
Enriching targeted sequencing experiments for rare disease alleles
-
Edwards TL, Song Z, Li C. 2011. Enriching targeted sequencing experiments for rare disease alleles. Bioinformatics 27:2112-2118.
-
(2011)
Bioinformatics
, vol.27
, pp. 2112-2118
-
-
Edwards, T.L.1
Song, Z.2
Li, C.3
-
9
-
-
80051816176
-
Identity by descent estimation with dense genome-wide genotype data
-
Han L, Abney M. 2011. Identity by descent estimation with dense genome-wide genotype data. Genet Epidemiol 35:557-567.
-
(2011)
Genet Epidemiol
, vol.35
, pp. 557-567
-
-
Han, L.1
Abney, M.2
-
10
-
-
77952888699
-
De novo mutations of SETBP1 cause Schinzel-Giedion syndrome
-
Hoischen A, van Bon BW, Gilissen C, Arts P, van LB, Steehouwer M, de VP, de RR, Wieskamp N, Mortier G, Devriendt K, Amorim MZ, Revencu N, Kidd A, Barbosa M, Turner A, Smith J, Oley C, Henderson A, Hayes IM, Thompson EM, Brunner HG, de Vries BB, Veltman JA. 2010. De novo mutations of SETBP1 cause Schinzel-Giedion syndrome. Nat Genet 42:483-485.
-
(2010)
Nat Genet
, vol.42
, pp. 483-485
-
-
Hoischen, A.1
van Bon, B.W.2
Gilissen, C.3
Arts, P.4
van, L.B.5
Steehouwer, M.6
de, V.P.7
de, R.R.8
Wieskamp, N.9
Mortier, G.10
Devriendt, K.11
Amorim, M.Z.12
Revencu, N.13
Kidd, A.14
Barbosa, M.15
Turner, A.16
Smith, J.17
Oley, C.18
Henderson, A.19
Hayes, I.M.20
Thompson, E.M.21
Brunner, H.G.22
de Vries, B.B.23
Veltman, J.A.24
more..
-
11
-
-
67651222400
-
A flexible and accurate genotype imputation method for the next generation of genome-wide association studies
-
Howie BN, Donnelly P, Marchini J. 2009. A flexible and accurate genotype imputation method for the next generation of genome-wide association studies. PLoS Genet 5:e1000529.
-
(2009)
PLoS Genet
, vol.5
-
-
Howie, B.N.1
Donnelly, P.2
Marchini, J.3
-
12
-
-
78751695726
-
Increased power of mixed models facilitates association mapping of 10 loci for metabolic traits in an isolated population
-
Kenny EE, Kim M, Gusev A, Lowe JK, Salit J, Smith JG, Kovvali S, Kang HM, Newton-Cheh C, Daly MJ, Stoffel M, Altshuler DM, Friedman JM, Eskin E, Breslow JL, Pe'er I. 2011. Increased power of mixed models facilitates association mapping of 10 loci for metabolic traits in an isolated population. Hum Mol Genet 20:827-839.
-
(2011)
Hum Mol Genet
, vol.20
, pp. 827-839
-
-
Kenny, E.E.1
Kim, M.2
Gusev, A.3
Lowe, J.K.4
Salit, J.5
Smith, J.G.6
Kovvali, S.7
Kang, H.M.8
Newton-Cheh, C.9
Daly, M.J.10
Stoffel, M.11
Altshuler, D.M.12
Friedman, J.M.13
Eskin, E.14
Breslow, J.L.15
Pe'er, I.16
-
13
-
-
77955081460
-
Unexpected allelic heterogeneity and spectrum of mutations in Fowler syndrome revealed by next-generation exome sequencing
-
Lalonde E, Albrecht S, Ha KC, Jacob K, Bolduc N, Polychronakos C, Dechelotte P, Majewski J, Jabado N. 2010. Unexpected allelic heterogeneity and spectrum of mutations in Fowler syndrome revealed by next-generation exome sequencing. Hum Mutat 31:918-923.
-
(2010)
Hum Mutat
, vol.31
, pp. 918-923
-
-
Lalonde, E.1
Albrecht, S.2
Ha, K.C.3
Jacob, K.4
Bolduc, N.5
Polychronakos, C.6
Dechelotte, P.7
Majewski, J.8
Jabado, N.9
-
14
-
-
0023239442
-
Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children
-
Lander ES, Botstein D. 1987. Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children. Science 236:1567-1570.
-
(1987)
Science
, vol.236
, pp. 1567-1570
-
-
Lander, E.S.1
Botstein, D.2
-
15
-
-
84862248839
-
-
Mathematical and Statistical Methods for Genetic Analysis. New York: Springer-Verlag.
-
Lange K. 1997. Mathematical and Statistical Methods for Genetic Analysis. New York: Springer-Verlag.
-
(1997)
-
-
Lange, K.1
-
16
-
-
44649093326
-
A SNP streak model for the identification of genetic regions identical-by-descent
-
Article16.
-
Leibon G, Rockmore DN, Pollak MR. 2008. A SNP streak model for the identification of genetic regions identical-by-descent. Stat Appl Genet Mol Biol 7:Article16.
-
(2008)
Stat Appl Genet Mol Biol
, vol.7
-
-
Leibon, G.1
Rockmore, D.N.2
Pollak, M.R.3
-
17
-
-
78649508578
-
MaCH: using sequence and genotype data to estimate haplotypes and unobserved genotypes
-
Li Y, Willer CJ, Ding J, Scheet P, Abecasis GR. 2010. MaCH: using sequence and genotype data to estimate haplotypes and unobserved genotypes. Genet Epidemiol 34:816-834.
-
(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
-
18
-
-
78149265272
-
Robust relationship inference in genome-wide association studies
-
Manichaikul A, Mychaleckyj JC, Rich SS, Daly K, Sale M, Chen WM. 2010. Robust relationship inference in genome-wide association studies. Bioinformatics 26:2867-2873.
-
(2010)
Bioinformatics
, vol.26
, pp. 2867-2873
-
-
Manichaikul, A.1
Mychaleckyj, J.C.2
Rich, S.S.3
Daly, K.4
Sale, M.5
Chen, W.M.6
-
19
-
-
34347344976
-
A new multipoint method for genome-wide association studies by imputation of genotypes
-
Marchini J, Howie B, Myers S, McVean G, Donnelly P. 2007. A new multipoint method for genome-wide association studies by imputation of genotypes. Nat Genet 39:906-913.
-
(2007)
Nat Genet
, vol.39
, pp. 906-913
-
-
Marchini, J.1
Howie, B.2
Myers, S.3
McVean, G.4
Donnelly, P.5
-
20
-
-
0032231748
-
Mapping genes that underlie ethnic differences in disease risk: methods for detecting linkage in admixed populations, by conditioning on parental admixture
-
McKeigue PM. 1998. Mapping genes that underlie ethnic differences in disease risk: methods for detecting linkage in admixed populations, by conditioning on parental admixture. Am J Hum Genet 63:241-251.
-
(1998)
Am J Hum Genet
, vol.63
, pp. 241-251
-
-
McKeigue, P.M.1
-
21
-
-
79959893242
-
A method for detecting IBD regions simultaneously in multiple individuals-with applications to disease genetics
-
Moltke I, Albrechtsen A, Hansen TV, Nielsen FC, Nielsen R. 2011. A method for detecting IBD regions simultaneously in multiple individuals-with applications to disease genetics. Genome Res 21:1168-1180.
-
(2011)
Genome Res
, vol.21
, pp. 1168-1180
-
-
Moltke, I.1
Albrechtsen, A.2
Hansen, T.V.3
Nielsen, F.C.4
Nielsen, R.5
-
22
-
-
70249111091
-
Targeted capture and massively parallel sequencing of 12 human exomes
-
Ng SB, Turner EH, Robertson PD, Flygare SD, Bigham AW, Lee C, Shaffer T, Wong M, Bhattacharjee A, Eichler EE, Bamshad M, Nickerson DA, Shendure J. 2009. Targeted capture and massively parallel sequencing of 12 human exomes. Nature 461:272-276.
-
(2009)
Nature
, vol.461
, pp. 272-276
-
-
Ng, S.B.1
Turner, E.H.2
Robertson, P.D.3
Flygare, S.D.4
Bigham, A.W.5
Lee, C.6
Shaffer, T.7
Wong, M.8
Bhattacharjee, A.9
Eichler, E.E.10
Bamshad, M.11
Nickerson, D.A.12
Shendure, J.13
-
23
-
-
77956642100
-
Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome
-
Ng SB, Bigham AW, Buckingham KJ, Hannibal MC, McMillin MJ, Gildersleeve HI, Beck AE, Tabor HK, Cooper GM, Mefford HC, Lee C, Turner EH, Smith JD, Rieder MJ, Yoshiura K, Matsumoto N, Ohta T, Niikawa N, Nickerson DA, Bamshad MJ, Shendure J. 2010. Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome. Nat Genet 42:790-793.
-
(2010)
Nat Genet
, vol.42
, pp. 790-793
-
-
Ng, S.B.1
Bigham, A.W.2
Buckingham, K.J.3
Hannibal, M.C.4
McMillin, M.J.5
Gildersleeve, H.I.6
Beck, A.E.7
Tabor, H.K.8
Cooper, G.M.9
Mefford, H.C.10
Lee, C.11
Turner, E.H.12
Smith, J.D.13
Rieder, M.J.14
Yoshiura, K.15
Matsumoto, N.16
Ohta, T.17
Niikawa, N.18
Nickerson, D.A.19
Bamshad, M.J.20
Shendure, J.21
more..
-
24
-
-
34548292504
-
PLINK: a tool set for whole-genome association and population-based linkage analyses
-
Purcell S, Neale B, Todd-Brown K, Thomas L, Ferreira MA, Bender D, Maller J, Sklar P, de Bakker PI, Daly MJ, Sham PC. 2007. PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet 81:559-575.
-
(2007)
Am J Hum Genet
, vol.81
, pp. 559-575
-
-
Purcell, S.1
Neale, B.2
Todd-Brown, K.3
Thomas, L.4
Ferreira, M.A.5
Bender, D.6
Maller, J.7
Sklar, P.8
de Bakker, P.I.9
Daly, M.J.10
Sham, P.C.11
-
25
-
-
79953197889
-
Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss
-
Simpson MA, Irving MD, Asilmaz E, Gray MJ, Dafou D, Elmslie FV, Mansour S, Holder SE, Brain CE, Burton BK, Kim KH, Pauli RM, Aftimos S, Stewart H, Kim CA, Holder-Espinasse M, Robertson SP, Drake WM, Trembath RC. 2011. Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss. Nat Genet 43:303-305.
-
(2011)
Nat Genet
, vol.43
, pp. 303-305
-
-
Simpson, M.A.1
Irving, M.D.2
Asilmaz, E.3
Gray, M.J.4
Dafou, D.5
Elmslie, F.V.6
Mansour, S.7
Holder, S.E.8
Brain, C.E.9
Burton, B.K.10
Kim, K.H.11
Pauli, R.M.12
Aftimos, S.13
Stewart, H.14
Kim, C.A.15
Holder-Espinasse, M.16
Robertson, S.P.17
Drake, W.M.18
Trembath, R.C.19
-
26
-
-
38949189981
-
Shared genomic segment analysis. Mapping disease predisposition genes in extended pedigrees using SNP genotype assays
-
Thomas A, Camp NJ, Farnham JM, Allen-Brady K, Cannon-Albright LA. 2008. Shared genomic segment analysis. Mapping disease predisposition genes in extended pedigrees using SNP genotype assays. Ann Hum Genet 72:279-287.
-
(2008)
Ann Hum Genet
, vol.72
, pp. 279-287
-
-
Thomas, A.1
Camp, N.J.2
Farnham, J.M.3
Allen-Brady, K.4
Cannon-Albright, L.A.5
-
27
-
-
33646694298
-
Confounding from cryptic relatedness in case-control association studies
-
Voight BF, Pritchard JK. 2005. Confounding from cryptic relatedness in case-control association studies. PLoS Genet 1:e32.
-
(2005)
PLoS Genet
, vol.1
-
-
Voight, B.F.1
Pritchard, J.K.2
-
28
-
-
76649122154
-
Detecting rare variants for complex traits using family and unrelated data
-
Zhu X, Feng T, Li Y, Lu Q, Elston RC. 2010. Detecting rare variants for complex traits using family and unrelated data. Genet Epidemiol 34:171-187.
-
(2010)
Genet Epidemiol
, vol.34
, pp. 171-187
-
-
Zhu, X.1
Feng, T.2
Li, Y.3
Lu, Q.4
Elston, R.C.5
|