-
1
-
-
84861598099
-
Extremely low-coverage sequencing and imputation increases power for genome-wide association studies
-
Pasaniuc, B. et al. Extremely low-coverage sequencing and imputation increases power for genome-wide association studies. Nature Genet. 44, 631-635 (2012).
-
(2012)
Nature Genet.
, vol.44
, pp. 631-635
-
-
Pasaniuc, B.1
-
2
-
-
84885020424
-
Genome-wide association analysis identifies 13 new risk loci for schizophrenia
-
Ripke, S. et al. Genome-wide association analysis identifies 13 new risk loci for schizophrenia. Nature Genet. 45, 1150-1159 (2013).
-
(2013)
Nature Genet.
, vol.45
, pp. 1150-1159
-
-
Ripke, S.1
-
3
-
-
84870512735
-
Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity
-
Tsoi, L. C. et al. Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity. Nature Genet. 44, 1341-1348 (2012).
-
(2012)
Nature Genet.
, vol.44
, pp. 1341-1348
-
-
Tsoi, L.C.1
-
4
-
-
84939599004
-
Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease
-
Nalls, M. A. et al. Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease. Nature Genet. 46, 989-993 (2014).
-
(2014)
Nature Genet.
, vol.46
, pp. 989-993
-
-
Nalls, M.A.1
-
5
-
-
84897583960
-
Resurrecting surviving Neandertal lineages from modern human genomes
-
Vernot, B. & Akey, J. M. Resurrecting surviving Neandertal lineages from modern human genomes. Science 343, 1017-1021 (2014).
-
(2014)
Science
, vol.343
, pp. 1017-1021
-
-
Vernot, B.1
Akey, J.M.2
-
6
-
-
84897025665
-
The genomic landscape of Neanderthal ancestry in present-day humans
-
Sankararaman, S. et al. The genomic landscape of Neanderthal ancestry in present-day humans. Nature 507, 354-357 (2014).
-
(2014)
Nature
, vol.507
, pp. 354-357
-
-
Sankararaman, S.1
-
7
-
-
84905572361
-
Inferring human population size and separation history from multiple genome sequences
-
Schiffels, S. & Durbin, R. Inferring human population size and separation history from multiple genome sequences. Nature Genet. 46, 919-925 (2014).
-
(2014)
Nature Genet.
, vol.46
, pp. 919-925
-
-
Schiffels, S.1
Durbin, R.2
-
8
-
-
0034641736
-
2-adrenergic receptor haplotypes alter receptor expression and predict in vivo responsiveness
-
2-adrenergic receptor haplotypes alter receptor expression and predict in vivo responsiveness. Proc. Natl Acad. Sci. USA 97, 10483-10488 (2000).
-
(2000)
Proc. Natl Acad. Sci. USA
, vol.97
, pp. 10483-10488
-
-
Drysdale, C.M.1
-
9
-
-
79955998006
-
Relationship between single nucleotide polymorphisms and haplotypes in DPYD and toxicity and efficacy of capecitabine in advanced colorectal cancer
-
Deenen, M. J. et al. Relationship between single nucleotide polymorphisms and haplotypes in DPYD and toxicity and efficacy of capecitabine in advanced colorectal cancer. Clin. Cancer Res. 17, 3455-3468 (2011).
-
(2011)
Clin. Cancer Res.
, vol.17
, pp. 3455-3468
-
-
Deenen, M.J.1
-
10
-
-
80053019891
-
Haplotype phasing: Existing methods and new developments
-
Browning, S. R. & Browning, B. L. Haplotype phasing: existing methods and new developments. Nature Rev. Genet. 12, 703-714 (2011).
-
(2011)
Nature Rev. Genet.
, vol.12
, pp. 703-714
-
-
Browning, S.R.1
Browning, B.L.2
-
11
-
-
84975795680
-
An integrated map of genetic variation from 1,092 human genomes
-
The 1000 Genomes Project Consortium. An integrated map of genetic variation from 1,092 human genomes. Nature 490, 56-65 (2012).
-
(2012)
Nature
, vol.490
, pp. 56-65
-
-
-
12
-
-
2042437650
-
Initial sequencing and analysis of the human genome
-
International Human Genome Sequencing Consortium. Initial sequencing and analysis of the human genome. Nature 409, 860-921 (2001).
-
(2001)
Nature
, vol.409
, pp. 860-921
-
-
-
13
-
-
59249102648
-
Reduced neutrophil count in people of African descent is due to a regulatory variant in the duffy antigen receptor for chemokines gene
-
Reich, D. et al. Reduced neutrophil count in people of African descent is due to a regulatory variant in the duffy antigen receptor for chemokines gene. PLoS Genet. 5, e1000360 (2009).
-
(2009)
PLoS Genet.
, vol.5
, pp. e1000360
-
-
Reich, D.1
-
14
-
-
77952136530
-
A draft sequence of the Neandertal genome
-
Green, R. E. et al. A draft sequence of the Neandertal genome. Science 328, 710-722 (2010).
-
(2010)
Science
, vol.328
, pp. 710-722
-
-
Green, R.E.1
-
15
-
-
35648976118
-
The diploid genome sequence of an individual human
-
Levy, S. et al. The diploid genome sequence of an individual human. PLoS Biol. 5, e254 (2007).
-
(2007)
PLoS Biol.
, vol.5
, pp. e254
-
-
Levy, S.1
-
16
-
-
0035895505
-
The sequence of the human genome
-
Venter, J. C. The sequence of the human genome. Science 291, 1304-1351 (2001).
-
(2001)
Science
, vol.291
, pp. 1304-1351
-
-
Venter, J.C.1
-
17
-
-
84869457261
-
The expanding scope of DNA sequencing
-
Shendure, J. & Aiden, E. L. The expanding scope of DNA sequencing. Nature Biotech. 30, 1084-1094 (2012).
-
(2012)
Nature Biotech.
, vol.30
, pp. 1084-1094
-
-
Shendure, J.1
Aiden, E.L.2
-
18
-
-
69749090013
-
Sequence and structural variation in a human genome uncovered by short-read, massively parallel ligation sequencing using two-base encoding
-
McKernan, K. J. et al. Sequence and structural variation in a human genome uncovered by short-read, massively parallel ligation sequencing using two-base encoding. Genome Res. 19, 1527-1541 (2009).
-
(2009)
Genome Res.
, vol.19
, pp. 1527-1541
-
-
McKernan, K.J.1
-
19
-
-
0024461309
-
Happy mapping: A proposal for linkage mapping the human genome
-
Dear, P. H. & Cook, P. R. Happy mapping: a proposal for linkage mapping the human genome. Nucleic Acids Res. 17, 6795-6807 (1989).
-
(1989)
Nucleic Acids Res.
, vol.17
, pp. 6795-6807
-
-
Dear, P.H.1
Cook, P.R.2
-
20
-
-
0348013052
-
Clone-based systematic haplotyping (CSH): A procedure for physical haplotyping of whole genomes
-
Burgtorf, C. et al. Clone-based systematic haplotyping (CSH): a procedure for physical haplotyping of whole genomes. Genome Res. 13, 2717-2724 (2003).
-
(2003)
Genome Res.
, vol.13
, pp. 2717-2724
-
-
Burgtorf, C.1
-
21
-
-
28644448038
-
Targeted, haplotype-resolved resequencing of long segments of the human genome
-
Raymond, C. K. et al. Targeted, haplotype-resolved resequencing of long segments of the human genome. Genomics 86, 759-766 (2005).
-
(2005)
Genomics
, vol.86
, pp. 759-766
-
-
Raymond, C.K.1
-
22
-
-
78651333227
-
Haplotype-resolved genome sequencing of a Gujarati Indian individual
-
Kitzman, J. O. et al. Haplotype-resolved genome sequencing of a Gujarati Indian individual. Nature Biotech. 29, 59-63 (2011).
-
(2011)
Nature Biotech.
, vol.29
, pp. 59-63
-
-
Kitzman, J.O.1
-
23
-
-
84883674186
-
On the design of clone-based haplotyping
-
Lo, C. et al. On the design of clone-based haplotyping. Genome Biol. 14, R100 (2013).
-
(2013)
Genome Biol.
, vol.14
, pp. R100
-
-
Lo, C.1
-
24
-
-
80053028550
-
A comprehensively molecular haplotype-resolved genome of a European individual
-
Suk, E. K. et al. A comprehensively molecular haplotype-resolved genome of a European individual. Genome Res. 21, 1672-1685 (2011).
-
(2011)
Genome Res.
, vol.21
, pp. 1672-1685
-
-
Suk, E.K.1
-
25
-
-
84881401766
-
The haplotype-resolved genome and epigenome of the aneuploid HeLa cancer cell line
-
Adey, A. et al. The haplotype-resolved genome and epigenome of the aneuploid HeLa cancer cell line. Nature 500, 207-211 (2013).
-
(2013)
Nature
, vol.500
, pp. 207-211
-
-
Adey, A.1
-
26
-
-
84862118837
-
Noninvasive whole-genome sequencing of a human fetus
-
Kitzman, J. O. et al. Noninvasive whole-genome sequencing of a human fetus. Sci. Transl Med. 4, 137ra76 (2012).
-
(2012)
Sci. Transl Med.
, vol.4
, pp. 137ra76
-
-
Kitzman, J.O.1
-
27
-
-
84892365780
-
The complete genome sequence of a Neanderthal from the Altai Mountains
-
Prüfer, K. et al. The complete genome sequence of a Neanderthal from the Altai Mountains. Nature 505, 43-49 (2014).
-
(2014)
Nature
, vol.505
, pp. 43-49
-
-
Prüfer, K.1
-
28
-
-
84858386071
-
Fosmid-based whole genome haplotyping of a HapMap trio child: Evaluation of single individual haplotyping techniques
-
Duitama, J. et al. Fosmid-based whole genome haplotyping of a HapMap trio child: evaluation of single individual haplotyping techniques. Nucleic Acids Res. 40, 2041-2053 (2012).
-
(2012)
Nucleic Acids Res.
, vol.40
, pp. 2041-2053
-
-
Duitama, J.1
-
29
-
-
84923223571
-
Multiple haplotype-resolved genomes reveal population patterns of gene and protein diplotypes
-
Hoehe, M. R. et al. Multiple haplotype-resolved genomes reveal population patterns of gene and protein diplotypes. Nature Commun. 5, 5569 (2014).
-
(2014)
Nature Commun.
, vol.5
, pp. 5569
-
-
Hoehe, M.R.1
-
30
-
-
17244364751
-
Single-molecule dilution and multiple displacement amplification for molecular haplotyping
-
Paul, P. & Apgar, J. Single-molecule dilution and multiple displacement amplification for molecular haplotyping. Bio Techniques 38, 553-559 (2005).
-
(2005)
Bio Techniques
, vol.38
, pp. 553-559
-
-
Paul, P.1
Apgar, J.2
-
31
-
-
84863637922
-
Accurate whole-genome sequencing and haplotyping from 10 to 20 human cells
-
Peters, B. A. et al. Accurate whole-genome sequencing and haplotyping from 10 to 20 human cells. Nature 487, 190-195 (2012).
-
(2012)
Nature
, vol.487
, pp. 190-195
-
-
Peters, B.A.1
-
32
-
-
84875864497
-
Whole-genome haplotyping by dilution, amplification, and sequencing
-
Kaper, F. et al. Whole-genome haplotyping by dilution, amplification, and sequencing. Proc. Natl Acad. Sci. USA 110, 5552-5557 (2013).
-
(2013)
Proc. Natl Acad. Sci. USA
, vol.110
, pp. 5552-5557
-
-
Kaper, F.1
-
33
-
-
84898654757
-
Whole-genome haplotyping using long reads and statistical methods
-
Kuleshov, V. et al. Whole-genome haplotyping using long reads and statistical methods. Nature Biotech. 32, 261-266 (2014).
-
(2014)
Nature Biotech.
, vol.32
, pp. 261-266
-
-
Kuleshov, V.1
-
34
-
-
84922537404
-
Haplotype-resolved whole-genome sequencing by contiguity-preserving transposition and combinatorial indexing
-
Amini, S. et al. Haplotype-resolved whole-genome sequencing by contiguity-preserving transposition and combinatorial indexing. Nature Genet. 46, 1343-1349 (2014).
-
(2014)
Nature Genet.
, vol.46
, pp. 1343-1349
-
-
Amini, S.1
-
35
-
-
84929506496
-
10X Genomics at AGBT
-
[online]
-
Krol, A. 10X Genomics at AGBT. Bio-ITWorld [online], http://www.bio-itworld.com/2015/2/25/10x-genomics-agbt.html (2015).
-
(2015)
Bio-ITWorld
-
-
Krol, A.1
-
36
-
-
77449144323
-
Parallel, tag-directed assembly of locally derived short sequence reads
-
Hiatt, J. B., Patwardhan, R. P., Turner, E. H., Lee, C. & Shendure, J. Parallel, tag-directed assembly of locally derived short sequence reads. Nature Meth. 7, 119-122 (2010).
-
(2010)
Nature Meth.
, vol.7
, pp. 119-122
-
-
Hiatt, J.B.1
Patwardhan, R.P.2
Turner, E.H.3
Lee, C.4
Shendure, J.5
-
37
-
-
84881496498
-
The genome sequence of the colonial chordate, Botryllus schlosseri
-
Voskoboynik, A. et al. The genome sequence of the colonial chordate, Botryllus schlosseri. eLife 2, e00569 (2013).
-
(2013)
ELife
, vol.2
, pp. e00569
-
-
Voskoboynik, A.1
-
38
-
-
84905723571
-
Decoding long nanopore sequencing reads of natural DNA
-
Laszlo, A. H. et al. Decoding long nanopore sequencing reads of natural DNA. Nature Biotech. 32, 829-833 (2014).
-
(2014)
Nature Biotech.
, vol.32
, pp. 829-833
-
-
Laszlo, A.H.1
-
39
-
-
84925497196
-
Resolving the complexity of the human genome using single-molecule sequencing
-
Chaisson, M. J. P. et al. Resolving the complexity of the human genome using single-molecule sequencing. Nature 517, 608-611 (2015).
-
(2015)
Nature
, vol.517
, pp. 608-611
-
-
Chaisson, M.J.P.1
-
40
-
-
0034677493
-
Conversion of diploidy to haploidy
-
Yan, H. et al. Conversion of diploidy to haploidy. Nature 403, 723-724 (2000).
-
(2000)
Nature
, vol.403
, pp. 723-724
-
-
Yan, H.1
-
41
-
-
0034934775
-
Experimentally-derived haplotypes substantially increase the efficiency of linkage disequilibrium studies
-
Douglas, J. A., Boehnke, M., Gillanders, E., Trent, J. M. & Gruber, S. B. Experimentally-derived haplotypes substantially increase the efficiency of linkage disequilibrium studies. Nature Genet. 28, 361-364 (2001).
-
(2001)
Nature Genet.
, vol.28
, pp. 361-364
-
-
Douglas, J.A.1
Boehnke, M.2
Gillanders, E.3
Trent, J.M.4
Gruber, S.B.5
-
42
-
-
33644627112
-
Long-range polony haplotyping of individual human chromosome molecules
-
Zhang, K. et al. Long-range polony haplotyping of individual human chromosome molecules. Nature Genet. 38, 382-387 (2006).
-
(2006)
Nature Genet.
, vol.38
, pp. 382-387
-
-
Zhang, K.1
-
43
-
-
77951652022
-
Direct determination of molecular haplotypes by chromosome microdissection
-
Ma, L. et al. Direct determination of molecular haplotypes by chromosome microdissection. Nature Meth. 7, 299-301 (2010).
-
(2010)
Nature Meth.
, vol.7
, pp. 299-301
-
-
Ma, L.1
-
44
-
-
78651109312
-
Completely phased genome sequencing through chromosome sorting
-
Yang, H., Chen, X. & Wong, W. H. Completely phased genome sequencing through chromosome sorting. Proc. Natl Acad. Sci. USA 108, 12-17 (2011).
-
(2011)
Proc. Natl Acad. Sci. USA
, vol.108
, pp. 12-17
-
-
Yang, H.1
Chen, X.2
Wong, W.H.3
-
45
-
-
78651304279
-
Whole-genome molecular haplotyping of single cells
-
Fan, H. C., Wang, J., Potanina, A. & Quake, S. R. Whole-genome molecular haplotyping of single cells. Nature Biotech. 29, 51-57 (2010).
-
(2010)
Nature Biotech.
, vol.29
, pp. 51-57
-
-
Fan, H.C.1
Wang, J.2
Potanina, A.3
Quake, S.R.4
-
46
-
-
84871461434
-
Genome-wide detection of single-nucleotide and copy-number variations of a single human cell
-
Zong, C., Lu, S., Chapman, A. R. & Xie, X. S. Genome-wide detection of single-nucleotide and copy-number variations of a single human cell. Science 338, 1622-1626 (2012).
-
(2012)
Science
, vol.338
, pp. 1622-1626
-
-
Zong, C.1
Lu, S.2
Chapman, A.R.3
Xie, X.S.4
-
47
-
-
84864258558
-
Genome-wide single-cell analysis of recombination activity and de novo mutation rates in human sperm
-
Wang, J., Fan, H. C., Behr, B. & Quake, S. R. Genome-wide single-cell analysis of recombination activity and de novo mutation rates in human sperm. Cell 150, 402-412 (2012).
-
(2012)
Cell
, vol.150
, pp. 402-412
-
-
Wang, J.1
Fan, H.C.2
Behr, B.3
Quake, S.R.4
-
48
-
-
84877156149
-
Sequencing of isolated sperm cells for direct haplotyping of a human genome
-
Kirkness, E. F. et al. Sequencing of isolated sperm cells for direct haplotyping of a human genome. Genome Res. 23, 826-832 (2013).
-
(2013)
Genome Res.
, vol.23
, pp. 826-832
-
-
Kirkness, E.F.1
-
49
-
-
84871447495
-
Probing meiotic recombination and aneuploidy of single sperm cells by whole-genome sequencing
-
Lu, S. et al. Probing meiotic recombination and aneuploidy of single sperm cells by whole-genome sequencing. Science 338, 1627-1630 (2012).
-
(2012)
Science
, vol.338
, pp. 1627-1630
-
-
Lu, S.1
-
50
-
-
84893594630
-
Genome analyses of single human oocytes
-
Hou, Y. et al. Genome analyses of single human oocytes. Cell 155, 1492-1506 (2013).
-
(2013)
Cell
, vol.155
, pp. 1492-1506
-
-
Hou, Y.1
-
51
-
-
84920645442
-
A quantitative comparison of single-cell whole genome amplification methods
-
de Bourcy, C. F. A. et al. A quantitative comparison of single-cell whole genome amplification methods. PLoS ONE 9, e105585 (2014).
-
(2014)
PLoS ONE
, vol.9
, pp. e105585
-
-
De Bourcy, C.F.A.1
-
52
-
-
70349873824
-
Comprehensive mapping of long-range interactions reveals folding principles of the human genome
-
Lieberman-Aiden, E. et al. Comprehensive mapping of long-range interactions reveals folding principles of the human genome. Science 326, 289-293 (2009).
-
(2009)
Science
, vol.326
, pp. 289-293
-
-
Lieberman-Aiden, E.1
-
53
-
-
77952744854
-
A three-dimensional model of the yeast genome
-
Duan, Z. et al. A three-dimensional model of the yeast genome. Nature 465, 363-367 (2010).
-
(2010)
Nature
, vol.465
, pp. 363-367
-
-
Duan, Z.1
-
54
-
-
84878011578
-
Exploring the three-dimensional organization of genomes: Interpreting chromatin interaction data
-
Dekker, J., Marti-Renom, M. A. & Mirny, L. A. Exploring the three-dimensional organization of genomes: interpreting chromatin interaction data. Nature Rev. Genet. 14, 390-403 (2013).
-
(2013)
Nature Rev. Genet.
, vol.14
, pp. 390-403
-
-
Dekker, J.1
Marti-Renom, M.A.2
Mirny, L.A.3
-
55
-
-
84890023970
-
Whole-genome haplotype reconstruction using proximity-ligation and shotgun sequencing
-
Selvaraj, S., R. Dixon, J., Bansal, V. & Ren, B. Whole-genome haplotype reconstruction using proximity-ligation and shotgun sequencing. Nature Biotech. 31, 1111-1118 (2013).
-
(2013)
Nature Biotech.
, vol.31
, pp. 1111-1118
-
-
Selvaraj, S.R.1
Dixon, J.2
Bansal, V.3
Ren, B.4
-
57
-
-
84943255398
-
-
(eds Goos, G. et al.) (Springer)
-
Lancia, G., Bafna, V., Istrail, S., Lippert, R. & Schwartz, R. in Lecture Notes in Computer Science Vol. 2161 (eds Goos, G. et al.)182-193 (Springer, 2001).
-
(2001)
Lecture Notes in Computer Science
, vol.2161
, pp. 182-193
-
-
Lancia, G.1
Bafna, V.2
Istrail, S.3
Lippert, R.4
Schwartz, R.5
-
58
-
-
48949103013
-
An MCMC algorithm for haplotype assembly from whole-genome sequence data
-
Bansal, V., Halpern, A. L., Axelrod, N. & Bafna, V. An MCMC algorithm for haplotype assembly from whole-genome sequence data. Genome Res. 18, 1336-1346 (2008).
-
(2008)
Genome Res.
, vol.18
, pp. 1336-1346
-
-
Bansal, V.1
Halpern, A.L.2
Axelrod, N.3
Bafna, V.4
-
59
-
-
49549099085
-
HapCUT: An efficient and accurate algorithm for the haplotype assembly problem
-
Bansal, V. & Bafna, V. HapCUT: an efficient and accurate algorithm for the haplotype assembly problem. Bioinformatics 24, i153-i159 (2008).
-
(2008)
Bioinformatics
, vol.24
, pp. i153-i159
-
-
Bansal, V.1
Bafna, V.2
-
60
-
-
84879933550
-
Haplotype assembly in polyploid genomes and identical by descent shared tracts
-
Aguiar, D. & Istrail, S. Haplotype assembly in polyploid genomes and identical by descent shared tracts. Bioinformatics 29, 352-360 (2013).
-
(2013)
Bioinformatics
, vol.29
, pp. 352-360
-
-
Aguiar, D.1
Istrail, S.2
-
61
-
-
84862568816
-
Hap Compass: A fast cycle basis algorithm for accurate haplotype assembly of sequence data
-
Aguiar, D. & Istrail, S. Hap Compass: a fast cycle basis algorithm for accurate haplotype assembly of sequence data. J. Comp. Bio. 19, 577-590 (2012).
-
(2012)
J. Comp. Bio.
, vol.19
, pp. 577-590
-
-
Aguiar, D.1
Istrail, S.2
-
62
-
-
79951534673
-
Strobe sequence design for haplotype assembly
-
Lo, C., Bashir, A., Bansal, V. & Bafna, V. Strobe sequence design for haplotype assembly. BMC Bioinformatics 12, S24 (2011).
-
(2011)
BMC Bioinformatics
, vol.12
, pp. S24
-
-
Lo, C.1
Bashir, A.2
Bansal, V.3
Bafna, V.4
-
63
-
-
84885228733
-
Haplotype estimation using sequencing reads
-
Delaneau, O., Howie, B., Cox, A. J., Zagury, J.-F. & Marchini, J. Haplotype estimation using sequencing reads. Am. J. Hum. Genet. 93, 687-696 (2013).
-
(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
-
64
-
-
84897367480
-
Joint haplotype phasing and genotype calling of multiple individuals using haplotype informative reads
-
Zhang, K. & Zhi, D. Joint haplotype phasing and genotype calling of multiple individuals using haplotype informative reads. Bioinformatics 29, 2427-2434 (2013).
-
(2013)
Bioinformatics
, vol.29
, pp. 2427-2434
-
-
Zhang, K.1
Zhi, D.2
-
65
-
-
84883478420
-
Leveraging reads that span multiple single nucleotide polymorphisms for haplotype inference from sequencing data
-
Yang, W. Y. et al. Leveraging reads that span multiple single nucleotide polymorphisms for haplotype inference from sequencing data. Bioinformatics 29, 2245-2252 (2013).
-
(2013)
Bioinformatics
, vol.29
, pp. 2245-2252
-
-
Yang, W.Y.1
-
67
-
-
84863954202
-
Non-invasive prenatal measurement of the fetal genome
-
Fan, H. C. et al. Non-invasive prenatal measurement of the fetal genome. Nature 487, 320-324 (2012).
-
(2012)
Nature
, vol.487
, pp. 320-324
-
-
Fan, H.C.1
-
68
-
-
35348817330
-
Rapid and accurate haplotype phasing and missing-data inference for whole-genome association studies by use of localized haplotype clustering
-
Browning, S. R. & Browning, B. L. Rapid and accurate haplotype phasing and missing-data inference for whole-genome association studies by use of localized haplotype clustering. Am. J. Hum. Genet. 81, 1084-1097 (2007).
-
(2007)
Am. J. Hum. Genet.
, vol.81
, pp. 1084-1097
-
-
Browning, S.R.1
Browning, B.L.2
-
69
-
-
84907021664
-
Probabilistic single-individual haplotyping
-
Kuleshov, V. Probabilistic single-individual haplotyping. Bioinformatics 30, i379-i385 (2014).
-
(2014)
Bioinformatics
, vol.30
, pp. i379-i385
-
-
Kuleshov, V.1
-
70
-
-
84877343037
-
Mix SIH: A mixture model for single individual haplotyping
-
Matsumoto, H. & Kiryu, H. Mix SIH: a mixture model for single individual haplotyping. BMC Genomics 14, S5 (2013).
-
(2013)
BMC Genomics
, vol.14
, pp. S5
-
-
Matsumoto, H.1
Kiryu, H.2
-
71
-
-
84864599767
-
Genomic patterns of homozygosity in worldwide human populations
-
Pemberton, T. J. et al. Genomic patterns of homozygosity in worldwide human populations. Am. J. Hum. Genet. 91, 275-292 (2012).
-
(2012)
Am. J. Hum. Genet.
, vol.91
, pp. 275-292
-
-
Pemberton, T.J.1
-
72
-
-
84861550476
-
The life history of 21 breast cancers
-
Nik-Zainal, S. et al. The life history of 21 breast cancers. Cell 149, 994-1007 (2012).
-
(2012)
Cell
, vol.149
, pp. 994-1007
-
-
Nik-Zainal, S.1
-
73
-
-
84887081901
-
Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism
-
Schaaf, C. P. et al. Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism. Nature Genet. 45, 1405-1408 (2013).
-
(2013)
Nature Genet.
, vol.45
, pp. 1405-1408
-
-
Schaaf, C.P.1
-
74
-
-
84900300766
-
Programming and inheritance of parental DNA methylomes in mammals
-
Wang, L. et al. Programming and inheritance of parental DNA methylomes in mammals. Cell 157, 979-991 (2014).
-
(2014)
Cell
, vol.157
, pp. 979-991
-
-
Wang, L.1
-
75
-
-
84865739425
-
Architecture of the human regulatory network derived from ENCODE data
-
Gerstein, M. B. et al. Architecture of the human regulatory network derived from ENCODE data. Nature 488, 91-100 (2012).
-
(2012)
Nature
, vol.488
, pp. 91-100
-
-
Gerstein, M.B.1
-
76
-
-
84857331867
-
Base-resolution analyses of sequence and parent-of-origin dependent DNA methylation in the mouse genome
-
Xie, W. et al. Base-resolution analyses of sequence and parent-of-origin dependent DNA methylation in the mouse genome. Cell 148, 816-831 (2012).
-
(2012)
Cell
, vol.148
, pp. 816-831
-
-
Xie, W.1
-
77
-
-
84923333199
-
Integrative analysis of haplotype-resolved epigenomes across human tissues
-
Leung, D. et al. Integrative analysis of haplotype-resolved epigenomes across human tissues. Nature 518, 350-354 (2015).
-
(2015)
Nature
, vol.518
, pp. 350-354
-
-
Leung, D.1
-
78
-
-
78650207098
-
Maternal plasma DNA sequencing reveals the genome-wide genetic and mutational profile of the fetus
-
Lo, Y. M. D. et al. Maternal plasma DNA sequencing reveals the genome-wide genetic and mutational profile of the fetus. Sci. Transl Med. 2, 61ra91 (2010).
-
(2010)
Sci. Transl Med.
, vol.2
, pp. 61ra91
-
-
Lo, Y.M.D.1
-
79
-
-
0026456701
-
The human XIST gene: Analysis of a 17 kb inactive X-specific RNA that contains conserved repeats and is highly localized within the nucleus
-
Brown, C. J. et al. The human XIST gene: analysis of a 17 kb inactive X-specific RNA that contains conserved repeats and is highly localized within the nucleus. Cell 71, 527-542 (1992).
-
(1992)
Cell
, vol.71
, pp. 527-542
-
-
Brown, C.J.1
-
80
-
-
79957509696
-
An autosomal locus that controls chromosome-wide replication timing and mono-allelic expression
-
Stoffregen, E. P., Donley, N., Stauffer, D., Smith, L. & Thayer, M. J. An autosomal locus that controls chromosome-wide replication timing and mono-allelic expression. Hum. Mol. Genet. 20, 2366-2378 (2011).
-
(2011)
Hum. Mol. Genet.
, vol.20
, pp. 2366-2378
-
-
Stoffregen, E.P.1
Donley, N.2
Stauffer, D.3
Smith, L.4
Thayer, M.J.5
-
81
-
-
34848901699
-
Determination of haplotypes from single DNA molecules: A method for single-molecule barcoding
-
Xiao, M. et al. Determination of haplotypes from single DNA molecules: a method for single-molecule barcoding. Hum. Mutat. 28, 913-921 (2007).
-
(2007)
Hum. Mutat.
, vol.28
, pp. 913-921
-
-
Xiao, M.1
-
82
-
-
61449165662
-
Direct determination of haplotypes from single DNA molecules
-
Xiao, M. et al. Direct determination of haplotypes from single DNA molecules. Nature Meth. 6, 199-201 (2009).
-
(2009)
Nature Meth.
, vol.6
, pp. 199-201
-
-
Xiao, M.1
-
83
-
-
0038285034
-
Digital genotyping and haplotyping with polymerase colonies
-
Mitra, R. D. et al. Digital genotyping and haplotyping with polymerase colonies. Proc. Natl Acad. Sci. USA 100, 5926-5931 (2003).
-
(2003)
Proc. Natl Acad. Sci. USA
, vol.100
, pp. 5926-5931
-
-
Mitra, R.D.1
-
84
-
-
19444381961
-
Molecular haplotyping by linking emulsion PCR: Analysis of paraoxonase 1 haplotypes and phenotypes
-
Wetmur, J. G. Molecular haplotyping by linking emulsion PCR: analysis of paraoxonase 1 haplotypes and phenotypes. Nucleic Acids Res. 33, 2615-2619 (2005).
-
(2005)
Nucleic Acids Res.
, vol.33
, pp. 2615-2619
-
-
Wetmur, J.G.1
-
85
-
-
33744514622
-
Assaying chromosomal inversions by single-molecule haplotyping
-
Turner, D. J. et al. Assaying chromosomal inversions by single-molecule haplotyping. Nature Meth. 3, 439-445 (2006).
-
(2006)
Nature Meth.
, vol.3
, pp. 439-445
-
-
Turner, D.J.1
-
86
-
-
84928911084
-
A rapid molecular approach for chromosomal phasing
-
Regan, J. F. et al. A rapid molecular approach for chromosomal phasing. PLoS ONE 10, e0118270 (2015).
-
(2015)
PLoS ONE
, vol.10
, pp. e0118270
-
-
Regan, J.F.1
-
87
-
-
80455129613
-
Targeted isolation of cloned genomic regions by recombineering for haplotype phasing and isogenic targeting
-
Nedelkova, M. et al. Targeted isolation of cloned genomic regions by recombineering for haplotype phasing and isogenic targeting. Nucleic Acids Res. 39, e137 (2011).
-
(2011)
Nucleic Acids Res.
, vol.39
, pp. e137
-
-
Nedelkova, M.1
-
88
-
-
84922273986
-
Targeted sequencing by proximity ligation for comprehensive variant detection and local haplotyping
-
de Vree, P. J. P. et al. Targeted sequencing by proximity ligation for comprehensive variant detection and local haplotyping. Nature Biotech. 32, 1019-1025 (2014).
-
(2014)
Nature Biotech.
, vol.32
, pp. 1019-1025
-
-
De Vree, P.J.P.1
-
89
-
-
84913548467
-
In vitro, long-range sequence information for de novo genome assembly via transposase contiguity
-
Adey, A. et al. In vitro, long-range sequence information for de novo genome assembly via transposase contiguity. Genome Res. 24, 2041-2049 (2014).
-
(2014)
Genome Res.
, vol.24
, pp. 2041-2049
-
-
Adey, A.1
-
90
-
-
84913600842
-
Single haplotype assembly of the human genome from a hydatidiform mole
-
Steinberg, K. M. et al. Single haplotype assembly of the human genome from a hydatidiform mole. Genome Res. 24, 2066-2076 (2014).
-
(2014)
Genome Res.
, vol.24
, pp. 2066-2076
-
-
Steinberg, K.M.1
-
91
-
-
84885620722
-
An erythroid enhancer of BCL11A subject to genetic variation determines fetal hemoglobin level
-
Bauer, D. E. et al. An erythroid enhancer of BCL11A subject to genetic variation determines fetal hemoglobin level. Science 342, 253-257 (2013).
-
(2013)
Science
, vol.342
, pp. 253-257
-
-
Bauer, D.E.1
|