-
1
-
-
84872143942
-
Analysis of 6, 515 exomes reveals the recent origin of most human protein-coding variants
-
Fu, W., et al. Analysis of 6, 515 exomes reveals the recent origin of most human protein-coding variants. Nature 493, 216-220 (2013).
-
(2013)
Nature
, vol.493
, pp. 216-220
-
-
Fu, W.1
-
2
-
-
84863556835
-
Evolution and functional impact of rare coding variation from deep sequencing of human exomes
-
Tennessen, J. A., et al. Evolution and functional impact of rare coding variation from deep sequencing of human exomes. Science 337, 64-69 (2012).
-
(2012)
Science
, vol.337
, pp. 64-69
-
-
Tennessen, J.A.1
-
3
-
-
84975795680
-
An integrated map of genetic variation from 1, 092 human genomes
-
1000 Genomes Project Consortium, et al.
-
1000 Genomes Project Consortium, et al. An integrated map of genetic variation from 1, 092 human genomes. Nature 491, 56-65 (2012).
-
(2012)
Nature
, vol.491
, pp. 56-65
-
-
-
4
-
-
84943171338
-
A global reference for human genetic variation
-
1000 Genomes Project Consortium, et al.
-
1000 Genomes Project Consortium, et al. A global reference for human genetic variation. Nature 526, 68-74 (2015).
-
(2015)
Nature
, vol.526
, pp. 68-74
-
-
-
5
-
-
84982253941
-
Analysis of protein-coding genetic variation in 60, 706 humans
-
Lek, M., et al. Analysis of protein-coding genetic variation in 60, 706 humans. Nature 536, 285-291 (2016).
-
(2016)
Nature
, vol.536
, pp. 285-291
-
-
Lek, M.1
-
6
-
-
84943182742
-
The UK10K project identifies rare variants in health and disease
-
Huang, J., et al. The UK10K project identifies rare variants in health and disease. Nature 526, 82-90 (2015).
-
(2015)
Nature
, vol.526
, pp. 82-90
-
-
Huang, J.1
-
7
-
-
84958183807
-
-
Population Division Department of Economic and Social Affairs United Nations
-
Population Division, Department of Economic and Social Affairs, United Nations. World Population Prospects: The 2015 Revision, Key Findings and Advance Tables. Available from: Https://esa.un.org/unpd/wpp/publications/files/key-findings-wpp-2015.pdf (2015).
-
(2015)
World Population Prospects: The 2015 Revision, Key Findings and Advance Tables
-
-
-
8
-
-
84939857070
-
Rare variant discovery by deep whole-genome sequencing of 1, 070 Japanese individuals
-
Nagasaki, M., et al. Rare variant discovery by deep whole-genome sequencing of 1, 070 Japanese individuals. Nat Commun 6, 8018 (2015).
-
(2015)
Nat Commun
, vol.6
, pp. 8018
-
-
Nagasaki, M.1
-
9
-
-
84976541585
-
Human genetic variation database, a reference database of genetic variations in the Japanese population
-
Higasa, K., et al. Human genetic variation database, a reference database of genetic variations in the Japanese population. J Hum Genet 61, 547-553 (2016).
-
(2016)
J Hum Genet
, vol.61
, pp. 547-553
-
-
Higasa, K.1
-
10
-
-
84979523711
-
Unequal representation of genetic variation across ancestry groups creates healthcare inequality in the application of precision medicine
-
Petrovski, S., Goldstein, D. B. Unequal representation of genetic variation across ancestry groups creates healthcare inequality in the application of precision medicine. Genome Biol 17, 489 (2016).
-
(2016)
Genome Biol
, vol.17
, pp. 489
-
-
Petrovski, S.1
Goldstein, D.B.2
-
11
-
-
61649090438
-
Timing the first human migration into eastern Asia
-
Stanyon, R., Sazzini, M., Luiselli, D. Timing the first human migration into eastern Asia. J. Biol. 8, 18 (2009).
-
(2009)
J. Biol.
, vol.8
, pp. 18
-
-
Stanyon, R.1
Sazzini, M.2
Luiselli, D.3
-
12
-
-
62649157941
-
The peopling of Korea revealed by analyses of mitochondrial DNA and Y-chromosomal markers
-
Jin, H.-J., Tyler-Smith, C., Kim, W. The peopling of Korea revealed by analyses of mitochondrial DNA and Y-chromosomal markers. PLoS ONE 4, e4210 (2009).
-
(2009)
PLoS ONE
, vol.4
, pp. e4210
-
-
Jin, H.-J.1
Tyler-Smith, C.2
Kim, W.3
-
14
-
-
84855351848
-
MIS3 edge-ground axes and the arrival of the first Homo sapiens in the Japanese archipelago
-
Takashi, T. MIS3 edge-ground axes and the arrival of the first Homo sapiens in the Japanese archipelago. Quat Int 248, 70-78 (2012).
-
(2012)
Quat Int
, vol.248
, pp. 70-78
-
-
Takashi, T.1
-
15
-
-
57549105439
-
Analysis of East Asia genetic substructure using genome-wide SNP arrays
-
Tian, C., et al. Analysis of East Asia genetic substructure using genome-wide SNP arrays. PLoS ONE 3, e3862 (2008).
-
(2008)
PLoS ONE
, vol.3
, pp. e3862
-
-
Tian, C.1
-
16
-
-
84929142042
-
Genome measures used for quality control are dependent on gene function and ancestry
-
Wang, J., Raskin, L., Samuels, D. C., Shyr, Y., Guo, Y. Genome measures used for quality control are dependent on gene function and ancestry. Bioinformatics 31, 318-323 (2015).
-
(2015)
Bioinformatics
, vol.31
, pp. 318-323
-
-
Wang, J.1
Raskin, L.2
Samuels, D.C.3
Shyr, Y.4
Guo, Y.5
-
17
-
-
77951640946
-
A method and server for predicting damaging missense mutations
-
Adzhubei, I. A., et al. A method and server for predicting damaging missense mutations. Nat. Methods 7, 248-249 (2010).
-
(2010)
Nat. Methods
, vol.7
, pp. 248-249
-
-
Adzhubei, I.A.1
-
18
-
-
84895858942
-
A general framework for estimating the relative pathogenicity of human genetic variants
-
Kircher, M., et al. A general framework for estimating the relative pathogenicity of human genetic variants. Nat. Genet. 46, 310-315 (2014).
-
(2014)
Nat. Genet.
, vol.46
, pp. 310-315
-
-
Kircher, M.1
-
19
-
-
68149165614
-
Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
-
Kumar, P., Henikoff, S., Ng, P. C. Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat Protoc 4, 1073-1081 (2009).
-
(2009)
Nat Protoc
, vol.4
, pp. 1073-1081
-
-
Kumar, P.1
Henikoff, S.2
Ng, P.C.3
-
20
-
-
22244452677
-
Distribution and intensity of constraint in mammalian genomic sequence
-
Cooper, G. M., et al. Distribution and intensity of constraint in mammalian genomic sequence. Genome Res 15, 901-913 (2005).
-
(2005)
Genome Res
, vol.15
, pp. 901-913
-
-
Cooper, G.M.1
-
21
-
-
1842536305
-
The DNA sequence and biology of human chromosome 19
-
Grimwood, J., et al. The DNA sequence and biology of human chromosome 19. Nature 428, 529-535 (2004).
-
(2004)
Nature
, vol.428
, pp. 529-535
-
-
Grimwood, J.1
-
22
-
-
84983063559
-
Patterns of genic intolerance of rare copy number variation in 59, 898 human exomes
-
Ruderfer, D. M., et al. Patterns of genic intolerance of rare copy number variation in 59, 898 human exomes. Nat. Genet. 48, 1107-1111 (2016).
-
(2016)
Nat. Genet.
, vol.48
, pp. 1107-1111
-
-
Ruderfer, D.M.1
-
23
-
-
67650099148
-
Deletion polymorphism of SIGLEC14 and its functional implications
-
Yamanaka, M., Kato, Y., Angata, T., Narimatsu, H. Deletion polymorphism of SIGLEC14 and its functional implications. Glycobiology 19, 841-846 (2009).
-
(2009)
Glycobiology
, vol.19
, pp. 841-846
-
-
Yamanaka, M.1
Kato, Y.2
Angata, T.3
Narimatsu, H.4
-
24
-
-
77956295988
-
The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data
-
McKenna, A., et al. The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res 20, 1297-1303 (2010).
-
(2010)
Genome Res
, vol.20
, pp. 1297-1303
-
-
McKenna, A.1
-
25
-
-
79960405019
-
The variant call format and VCFtools
-
Danecek, P., et al. The variant call format and VCFtools. Bioinformatics 27, 2156-2158 (2011).
-
(2011)
Bioinformatics
, vol.27
, pp. 2156-2158
-
-
Danecek, P.1
-
26
-
-
84870820953
-
A high-performance computing toolset for relatedness and principal component analysis of SNP data
-
Zheng, X., et al. A high-performance computing toolset for relatedness and principal component analysis of SNP data. Bioinformatics 28, 3326-3328 (2012).
-
(2012)
Bioinformatics
, vol.28
, pp. 3326-3328
-
-
Zheng, X.1
-
27
-
-
0021566877
-
Estimating F-statistics for the analysis of population structure
-
Weir, B. S., Cockerham, C. C. Estimating F-statistics for the analysis of population structure. evolution 38, 1358-1370 (1984).
-
(1984)
Evolution
, vol.38
, pp. 1358-1370
-
-
Weir, B.S.1
Cockerham, C.C.2
-
28
-
-
84865760395
-
GENCODE: The reference human genome annotation for the ENCODE Project
-
Harrow, J., et al. GENCODE: The reference human genome annotation for The ENCODE Project. Genome Res 22, 1760-1774 (2012).
-
(2012)
Genome Res
, vol.22
, pp. 1760-1774
-
-
Harrow, J.1
-
29
-
-
0242490780
-
Cytoscape: A software environment for integrated models of biomolecular interaction networks
-
Shannon, P., et al. Cytoscape: A software environment for integrated models of biomolecular interaction networks. Genome Res 13, 2498-2504 (2003).
-
(2003)
Genome Res
, vol.13
, pp. 2498-2504
-
-
Shannon, P.1
-
30
-
-
77956534324
-
ANNOVAR: Functional annotation of genetic variants from high-throughput sequencing data
-
Wang, K., Li, M., Hakonarson, H. ANNOVAR: Functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Res. 38, e164-e164 (2010).
-
(2010)
Nucleic Acids Res
, vol.38
, pp. e164-e164
-
-
Wang, K.1
Li, M.2
Hakonarson, H.3
-
31
-
-
84942234652
-
CODEX: A normalization and copy number variation detection method for whole exome sequencing
-
Jiang, Y., Oldridge, D. A., Diskin, S. J., Zhang, N. R. CODEX: A normalization and copy number variation detection method for whole exome sequencing. Nucleic Acids Res. 43, e39 (2015).
-
(2015)
Nucleic Acids Res.
, vol.43
, pp. e39
-
-
Jiang, Y.1
Oldridge, D.A.2
Diskin, S.J.3
Zhang, N.R.4
-
32
-
-
77951770756
-
BEDTools: A flexible suite of utilities for comparing genomic features
-
Quinlan, A. R., Hall, I. M. BEDTools: A flexible suite of utilities for comparing genomic features. Bioinformatics 26, 841-842 (2010).
-
(2010)
Bioinformatics
, vol.26
, pp. 841-842
-
-
Quinlan, A.R.1
Hall, I.M.2
-
33
-
-
84875634162
-
Integrative Genomics Viewer (IGV): High-performance genomics data visualization and exploration
-
Thorvaldsdóttir, H., Robinson, J. T., Mesirov, J. P. Integrative Genomics Viewer (IGV): High-performance genomics data visualization and exploration. Brief Bioinformatics 14, 178-192 (2013).
-
(2013)
Brief Bioinformatics
, vol.14
, pp. 178-192
-
-
Thorvaldsdóttir, H.1
Robinson, J.T.2
Mesirov, J.P.3
-
34
-
-
84881613239
-
DbNSFP v2.0: A database of human non-synonymous SNVs and their functional predictions and annotations
-
Liu, X., Jian, X., Boerwinkle, E. dbNSFP v2.0: A database of human non-synonymous SNVs and their functional predictions and annotations. Hum Mutat 34, E2393-2402 (2013).
-
(2013)
Hum Mutat
, vol.34
, pp. E2393-E2402
-
-
Liu, X.1
Jian, X.2
Boerwinkle, E.3
|