-
1
-
-
84975795680
-
An integrated map of genetic variation from 1,092 human genomes
-
Abecasis, G. R., Auton, A., Brooks, L. D., DePristo, M. A., Durbin, R. M., Handsaker, R. E., … McVean, G. A. (2012). An integrated map of genetic variation from 1,092 human genomes. Nature, 491(7422), 56–65.
-
(2012)
Nature
, vol.491
, Issue.7422
, 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
McVean, G.A.7
-
2
-
-
77956331627
-
Integrating common and rare genetic variation in diverse human populations
-
… The International HapMap 3 Consortium.
-
Altshuler, D. M., Gibbs, R. A., Peltonen, L., Dermitzakis, E., Schaffner, S. F., Yu, F., … The International HapMap 3 Consortium. (2010). Integrating common and rare genetic variation in diverse human populations. Nature, 467(7311), 52–58.
-
(2010)
Nature
, vol.467
, Issue.7311
, pp. 52-58
-
-
Altshuler, D.M.1
Gibbs, R.A.2
Peltonen, L.3
Dermitzakis, E.4
Schaffner, S.F.5
Yu, F.6
-
3
-
-
84943171338
-
A global reference for human genetic variation
-
Auton, A., Abecasis, G. R., Altshuler, D. M., Durbin, R. M., Bentley, D. R., Chakravarti, A., … Schloss, J. A. (2015). A global reference for human genetic variation. Nature, 526(7571), 68–74.
-
(2015)
Nature
, vol.526
, Issue.7571
, pp. 68-74
-
-
Auton, A.1
Abecasis, G.R.2
Altshuler, D.M.3
Durbin, R.M.4
Bentley, D.R.5
Chakravarti, A.6
Schloss, J.A.7
-
4
-
-
52949093871
-
African genetic diversity: Implications for human demographic history, modern human origins, and complex disease mapping
-
#x0026;
-
Campbell, M. C., & Tishkoff, S. A. (2008). African genetic diversity: Implications for human demographic history, modern human origins, and complex disease mapping. Annual Review of Genomics and Human Genetics, 9, 403–433.
-
(2008)
Annual Review of Genomics and Human Genetics
, vol.9
, pp. 403-433
-
-
Campbell, M.C.1
Tishkoff, S.A.2
-
5
-
-
84930213392
-
Second-generation PLINK: Rising to the challenge of larger and richer datasets
-
#x0026;
-
Chang, C. C., Chow, C. C., Tellier, L. C., Vattikuti, S., Purcell, S. M., & Lee, J. J. (2015). Second-generation PLINK: Rising to the challenge of larger and richer datasets. GigaScience, 4(1), 1–16.
-
(2015)
GigaScience
, vol.4
, Issue.1
, pp. 1-16
-
-
Chang, C.C.1
Chow, C.C.2
Tellier, L.C.3
Vattikuti, S.4
Purcell, S.M.5
Lee, J.J.6
-
6
-
-
84897908258
-
Technology: The 1,000 genome
-
Check Hayden, E. (2014). Technology: The 1,000 genome. Nature, 507(7492), 294–295.
-
(2014)
Nature
, vol.507
, Issue.7492
, pp. 294-295
-
-
Check Hayden, E.1
-
7
-
-
79955483667
-
A framework for variation discovery and genotyping using next-generation DNA sequencing data
-
DePristo, M. A., Banks, E., Poplin, R., Garimella, K. V., Maguire, J. R., Hartl, C., … Daly, M. J. (2011). A framework for variation discovery and genotyping using next-generation DNA sequencing data. Nature Genetics, 43(5), 491–498.
-
(2011)
Nature Genetics
, vol.43
, Issue.5
, pp. 491-498
-
-
DePristo, M.A.1
Banks, E.2
Poplin, R.3
Garimella, K.V.4
Maguire, J.R.5
Hartl, C.6
Daly, M.J.7
-
8
-
-
84923082408
-
Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction
-
Do, R., Stitziel, N. O., Won, H.-H., Jørgensen, A. B., Duga, S., Angelica Merlini, P., … Kathiresan, S. (2015). Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction. Nature, 518(7537), 102–106.
-
(2015)
Nature
, vol.518
, Issue.7537
, pp. 102-106
-
-
Do, R.1
Stitziel, N.O.2
Won, H.-H.3
Jørgensen, A.B.4
Duga, S.5
Angelica Merlini, P.6
Kathiresan, S.7
-
9
-
-
42249087793
-
Estimation of significance thresholds for genomewide association scans
-
#x0026;
-
Dudbridge, F., & Gusnanto, A. (2008). Estimation of significance thresholds for genomewide association scans. Genetic Epidemiology, 32(3), 227–234.
-
(2008)
Genetic Epidemiology
, vol.32
, Issue.3
, pp. 227-234
-
-
Dudbridge, F.1
Gusnanto, A.2
-
10
-
-
84953318772
-
The (in)famous GWAS P-value threshold revisited and updated for low-frequency variants
-
#x0026;
-
Fadista, J., Manning, A. K., Florez, J. C., & Groop, L. (2016). The (in)famous GWAS P-value threshold revisited and updated for low-frequency variants. European Journal of Human Genetics, 24(8), 1202–1205.
-
(2016)
European Journal of Human Genetics
, vol.24
, Issue.8
, pp. 1202-1205
-
-
Fadista, J.1
Manning, A.K.2
Florez, J.C.3
Groop, L.4
-
11
-
-
84905579746
-
Whole-genome sequence variation, population structure and demographic history of the Dutch population
-
Francioli, L. C., Menelaou, A., Pulit, S. L., van Dijk, F., Palamara, P. F., de Bakker, P. I., … Wijmenga, C. (2014). Whole-genome sequence variation, population structure and demographic history of the Dutch population. Nature Genetics, 46(8), 818–825.
-
(2014)
Nature Genetics
, vol.46
, Issue.8
, pp. 818-825
-
-
Francioli, L.C.1
Menelaou, A.2
Pulit, S.L.3
van Dijk, F.4
Palamara, P.F.5
de Bakker, P.I.6
Wijmenga, C.7
-
12
-
-
84879411643
-
Sequencing studies in human genetics: Design and interpretation
-
#x0026;
-
Goldstein, D. B., Allen, A., Keebler, J., Margulies, E. H., Petrou, S., Petrovski, S., & Sunyaev, S. (2013). Sequencing studies in human genetics: Design and interpretation. Nature Reviews Genetics, 14(7), 460–470.
-
(2013)
Nature Reviews Genetics
, vol.14
, Issue.7
, pp. 460-470
-
-
Goldstein, D.B.1
Allen, A.2
Keebler, J.3
Margulies, E.H.4
Petrou, S.5
Petrovski, S.6
Sunyaev, S.7
-
13
-
-
84874634237
-
Interpreting the role of de novo protein-coding mutations in neuropsychiatric disease
-
#x0026;
-
Gratten, J., Visscher, P. M., Mowry, B. J., & Wray, N. R. (2013). Interpreting the role of de novo protein-coding mutations in neuropsychiatric disease. Nature Genetics, 45(3), 234–238.
-
(2013)
Nature Genetics
, vol.45
, Issue.3
, pp. 234-238
-
-
Gratten, J.1
Visscher, P.M.2
Mowry, B.J.3
Wray, N.R.4
-
14
-
-
84928198929
-
The evaluation of tools used to predict the impact of missense variants is hindered by two types of circularity
-
Grimm, D. G., Azencott, C.-A., Aicheler, F., Gieraths, U., MacArthur, D. G., Samocha, K. E., … Borgwardt, K. M. (2015). The evaluation of tools used to predict the impact of missense variants is hindered by two types of circularity. Human Mutation, 36(5), 513–523.
-
(2015)
Human Mutation
, vol.36
, Issue.5
, pp. 513-523
-
-
Grimm, D.G.1
Azencott, C.-A.2
Aicheler, F.3
Gieraths, U.4
MacArthur, D.G.5
Samocha, K.E.6
Borgwardt, K.M.7
-
15
-
-
0036517472
-
A comprehensive review of genetic association studies
-
#x0026;
-
Hirschhorn, J. N., Lohmueller, K., Byrne, E., & Hirschhorn, K. (2002). A comprehensive review of genetic association studies. Genetics in Medicine, 4(2), 45–61.
-
(2002)
Genetics in Medicine
, vol.4
, Issue.2
, pp. 45-61
-
-
Hirschhorn, J.N.1
Lohmueller, K.2
Byrne, E.3
Hirschhorn, K.4
-
16
-
-
84992361866
-
Empirical estimation of genome-wide significance thresholds based on the 1000 Genomes Project data set
-
#x0026;
-
Kanai, M., Tanaka, T., & Okada, Y. (2016). Empirical estimation of genome-wide significance thresholds based on the 1000 Genomes Project data set. Journal of Human Genetics, 61(10), 861–866.
-
(2016)
Journal of Human Genetics
, vol.61
, Issue.10
, pp. 861-866
-
-
Kanai, M.1
Tanaka, T.2
Okada, Y.3
-
17
-
-
84861618864
-
Exome sequencing and the genetic basis of complex traits
-
Kiezun, A., Garimella, K., Do, R., Stitziel, N. O., Neale, B. M., McLaren, P. J., … Sunyaev, S. R. (2012). Exome sequencing and the genetic basis of complex traits. Nature Genetics, 44(6), 623–630.
-
(2012)
Nature Genetics
, vol.44
, Issue.6
, pp. 623-630
-
-
Kiezun, A.1
Garimella, K.2
Do, R.3
Stitziel, N.O.4
Neale, B.M.5
McLaren, P.J.6
Sunyaev, S.R.7
-
18
-
-
62649084535
-
Power of deep, all-exon resequencing for discovery of human trait genes
-
#x0026;
-
Kryukov, G. V., Shpunt, A., Stamatoyannopoulos, J. A., & Sunyaev, S. R. (2009). Power of deep, all-exon resequencing for discovery of human trait genes. Proceedings of the National Academy of Sciences of the United States of America, 106(10), 3871–3876.
-
(2009)
Proceedings of the National Academy of Sciences of the United States of America
, vol.106
, Issue.10
, pp. 3871-3876
-
-
Kryukov, G.V.1
Shpunt, A.2
Stamatoyannopoulos, J.A.3
Sunyaev, S.R.4
-
19
-
-
84904006087
-
Rare-variant association analysis: Study designs and statistical tests
-
#x0026;
-
Lee, S., Abecasis, G. R., Boehnke, M., & Lin, X. (2014). Rare-variant association analysis: Study designs and statistical tests. American Journal of Human Genetics, 95(1), 5–23.
-
(2014)
American Journal of Human Genetics
, vol.95
, Issue.1
, pp. 5-23
-
-
Lee, S.1
Abecasis, G.R.2
Boehnke, M.3
Lin, X.4
-
20
-
-
84926486633
-
Successful test launch for nanopore sequencing
-
#x0026;
-
Loman, N. J., & Watson, M. (2015). Successful test launch for nanopore sequencing. Nature Methods, 12(4), 303–304.
-
(2015)
Nature Methods
, vol.12
, Issue.4
, pp. 303-304
-
-
Loman, N.J.1
Watson, M.2
-
21
-
-
84863116742
-
A systematic survey of loss-of-function variants in human protein-coding genes
-
MacArthur, D. G., Balasubramanian, S., Frankish, A., Huang, N., Morris, J., Walter, K., … Tyler-Smith, C. (2012). A systematic survey of loss-of-function variants in human protein-coding genes. Science, 335(6070), 823–828.
-
(2012)
Science
, vol.335
, Issue.6070
, pp. 823-828
-
-
MacArthur, D.G.1
Balasubramanian, S.2
Frankish, A.3
Huang, N.4
Morris, J.5
Walter, K.6
Tyler-Smith, C.7
-
22
-
-
84899476119
-
Guidelines for investigating causality of sequence variants in human disease
-
MacArthur, D. G., Manolio, T. A., Dimmock, D. P., Rehm, H. L., Shendure, J., Abecasis, G. R., … Gunter, C. (2014). Guidelines for investigating causality of sequence variants in human disease. Nature, 508(7497), 469–476.
-
(2014)
Nature
, vol.508
, Issue.7497
, pp. 469-476
-
-
MacArthur, D.G.1
Manolio, T.A.2
Dimmock, D.P.3
Rehm, H.L.4
Shendure, J.5
Abecasis, G.R.6
Gunter, C.7
-
23
-
-
84864452226
-
The time is right to confront misconduct
-
Macilwain, C. (2012). The time is right to confront misconduct. Nature, 488(7409), 7.
-
(2012)
Nature
, vol.488
, Issue.7409
, pp. 7
-
-
Macilwain, C.1
-
24
-
-
80052825195
-
The functional spectrum of low-frequency coding variation
-
Marth, G. T., Yu, F., Indap, A. R., Garimella, K., Gravel, S., Leong, W., … Gibbs, R. (2011). The functional spectrum of low-frequency coding variation. Genome Biology, 12(9), R84.
-
(2011)
Genome Biology
, vol.12
, Issue.9
, pp. R84
-
-
Marth, G.T.1
Yu, F.2
Indap, A.R.3
Garimella, K.4
Gravel, S.5
Leong, W.6
Gibbs, R.7
-
25
-
-
77956295988
-
The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data
-
McKenna, A., Hanna, M., Banks, E., Sivachenko, A., Cibulskis, K., Kernytsky, A., … DePristo, M. A. (2010). The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data. Genome Research, 20(9), 1297–1303.
-
(2010)
Genome Research
, vol.20
, Issue.9
, pp. 1297-1303
-
-
McKenna, A.1
Hanna, M.2
Banks, E.3
Sivachenko, A.4
Cibulskis, K.5
Kernytsky, A.6
DePristo, M.A.7
-
26
-
-
84871736050
-
Genotype calling and phasing using next-generation sequencing reads and a haplotype scaffold
-
#x0026;
-
Menelaou, A., & Marchini, J. (2013). Genotype calling and phasing using next-generation sequencing reads and a haplotype scaffold. Bioinformatics, 29(1), 84–91.
-
(2013)
Bioinformatics
, vol.29
, Issue.1
, pp. 84-91
-
-
Menelaou, A.1
Marchini, J.2
-
27
-
-
84876904779
-
Raising standards
-
Nature Neuroscience Editors
-
Nature Neuroscience Editors. (2013). Raising standards. Nature Neuroscience, 16(5), 517.
-
(2013)
Nature Neuroscience
, vol.16
, Issue.5
, pp. 517
-
-
-
28
-
-
43249125992
-
Estimation of the multiple testing burden for genomewide association studies of nearly all common variants
-
#x0026;
-
Pe'er, I., Yelensky, R., Altshuler, D., & Daly, M. J. (2008). Estimation of the multiple testing burden for genomewide association studies of nearly all common variants. Genetic Epidemiology, 32(4), 381–385.
-
(2008)
Genetic Epidemiology
, vol.32
, Issue.4
, pp. 381-385
-
-
Pe'er, I.1
Yelensky, R.2
Altshuler, D.3
Daly, M.J.4
-
29
-
-
33746512512
-
Principal components analysis corrects for stratification in genome-wide association studies
-
#x0026;
-
Price, A. L., Patterson, N. J., Plenge, R. M., Weinblatt, M. E., Shadick, N. A., & Reich, D. (2006). Principal components analysis corrects for stratification in genome-wide association studies. Nature Genetics, 38(8), 904–909.
-
(2006)
Nature Genetics
, vol.38
, Issue.8
, pp. 904-909
-
-
Price, A.L.1
Patterson, N.J.2
Plenge, R.M.3
Weinblatt, M.E.4
Shadick, N.A.5
Reich, D.6
-
30
-
-
84897480108
-
Association claims in the sequencing era
-
#x0026;
-
Pulit, S., Leusink, M., Menelaou, A., & de Bakker, P. (2014). Association claims in the sequencing era. Genes, 5(1), 196–213.
-
(2014)
Genes
, vol.5
, Issue.1
, pp. 196-213
-
-
Pulit, S.1
Leusink, M.2
Menelaou, A.3
de Bakker, P.4
-
31
-
-
77958539602
-
Multiethnic genetic association studies improve power for locus discovery
-
#x0026;
-
Pulit, S. L., Voight, B. F., & de Bakker, P. I. W. (2010). Multiethnic genetic association studies improve power for locus discovery. PLoS One, 5(9), e12600.
-
(2010)
PLoS One
, vol.5
, Issue.9
-
-
Pulit, S.L.1
Voight, B.F.2
de Bakker, P.I.W.3
-
32
-
-
34548292504
-
PLINK: A tool set for whole-genome association and population-based linkage analyses
-
Purcell, S., Neale, B., Todd-Brown, K., Thomas, L., Ferreira, M. a R., Bender, D., … Sham, P. C. (2007). PLINK: A tool set for whole-genome association and population-based linkage analyses. American Journal of Human Genetics, 81(3), 559–575.
-
(2007)
American Journal of Human Genetics
, vol.81
, Issue.3
, pp. 559-575
-
-
Purcell, S.1
Neale, B.2
Todd-Brown, K.3
Thomas, L.4
Ferreira, M.A.R.5
Bender, D.6
Sham, P.C.7
-
33
-
-
77951133654
-
Genome-wide association studies in diverse populations
-
#x0026;
-
Rosenberg, N. a., Huang, L., Jewett, E. M., Szpiech, Z. a, Jankovic, I., & Boehnke, M. (2010). Genome-wide association studies in diverse populations. Nature Reviews Genetics, 11(5), 356–366.
-
(2010)
Nature Reviews Genetics
, vol.11
, Issue.5
, pp. 356-366
-
-
Rosenberg, N.A.1
Huang, L.2
Jewett, E.M.3
Szpiech, Z.A.4
Jankovic, I.5
Boehnke, M.6
-
34
-
-
84923225139
-
Addressing population-specific multiple testing burdens in genetic association studies
-
Sobota, R. S., Shriner, D., Kodaman, N., Goodloe, R., Zheng, W., Gao, Y. T., … Williams, S. M. (2015). Addressing population-specific multiple testing burdens in genetic association studies. Annals of Human Genetics, 79(2), 136–147.
-
(2015)
Annals of Human Genetics
, vol.79
, Issue.2
, pp. 136-147
-
-
Sobota, R.S.1
Shriner, D.2
Kodaman, N.3
Goodloe, R.4
Zheng, W.5
Gao, Y.T.6
Williams, S.M.7
-
35
-
-
84895858002
-
Identification of low-frequency and rare sequence variants associated with elevated or reduced risk of type 2 diabetes
-
Steinthorsdottir, V., Thorleifsson, G., Sulem, P., Helgason, H., Grarup, N., Sigurdsson, A., … Stefansson, K. (2014). Identification of low-frequency and rare sequence variants associated with elevated or reduced risk of type 2 diabetes. Nature Genetics, 46(3), 294–298.
-
(2014)
Nature Genetics
, vol.46
, Issue.3
, pp. 294-298
-
-
Steinthorsdottir, V.1
Thorleifsson, G.2
Sulem, P.3
Helgason, H.4
Grarup, N.5
Sigurdsson, A.6
Stefansson, K.7
-
36
-
-
79961193174
-
HAPGEN2: Simulation of multiple disease SNPs
-
#x0026;
-
Su, Z., Marchini, J., & Donnelly, P. (2011). HAPGEN2: Simulation of multiple disease SNPs. Bioinformatics, 27(16), 2304–2305.
-
(2011)
Bioinformatics
, vol.27
, Issue.16
, pp. 2304-2305
-
-
Su, Z.1
Marchini, J.2
Donnelly, P.3
-
37
-
-
80055001747
-
Identification of low-frequency variants associated with gout and serum uric acid levels
-
Sulem, P., Gudbjartsson, D. F., Walters, G. B., Helgadottir, H. T., Helgason, A., Gudjonsson, S. a, … Stefansson, K. (2011). Identification of low-frequency variants associated with gout and serum uric acid levels. Nature Genetics, 43(11), 1127–1130.
-
(2011)
Nature Genetics
, vol.43
, Issue.11
, pp. 1127-1130
-
-
Sulem, P.1
Gudbjartsson, D.F.2
Walters, G.B.3
Helgadottir, H.T.4
Helgason, A.5
Gudjonsson, S.A.6
Stefansson, K.7
-
38
-
-
84959575456
-
Weighting sequence variants based on their annotation increases power of whole-genome association studies
-
Sveinbjornsson, G., Albrechtsen, A., Zink, F., Gudjonsson, S. A., Oddson, A., Másson, G., … Stefansson, K. (2016). Weighting sequence variants based on their annotation increases power of whole-genome association studies. Nature Genetics, Submitted (3), 314–317.
-
(2016)
Nature Genetics
, vol.Submitted
, Issue.3
, pp. 314-317
-
-
Sveinbjornsson, G.1
Albrechtsen, A.2
Zink, F.3
Gudjonsson, S.A.4
Oddson, A.5
Másson, G.6
Stefansson, K.7
-
39
-
-
84896009017
-
From fastQ data to high-confidence variant calls: The genome analysis toolkit best practices pipeline
-
In, (p. 11.10.1–11.10.33)., Hoboken, NJ, USA, John Wiley & Sons, Inc
-
Van der Auwera, G. A., Carneiro, M. O., Hartl, C., Poplin, R., del Angel, G., Levy-Moonshine, A., … DePristo, M. A. (2013). From fastQ data to high-confidence variant calls: The genome analysis toolkit best practices pipeline. In Current Protocols in Bioinformatics (p. 11.10.1–11.10.33). Hoboken, NJ, USA: John Wiley & Sons, Inc.
-
(2013)
Current Protocols in Bioinformatics
-
-
Van der Auwera, G.A.1
Carneiro, M.O.2
Hartl, C.3
Poplin, R.4
del Angel, G.5
Levy-Moonshine, A.6
DePristo, M.A.7
-
40
-
-
84891790401
-
The NHGRI GWAS Catalog, a curated resource of SNP-trait associations
-
Welter, D., MacArthur, J., Morales, J., Burdett, T., Hall, P., Junkins, H., … Parkinson, H. (2014). The NHGRI GWAS Catalog, a curated resource of SNP-trait associations. Nucleic Acids Research, 42(D1), D1001–D1006.
-
(2014)
Nucleic Acids Research
, vol.42
, Issue.D1
, pp. D1001-D1006
-
-
Welter, D.1
MacArthur, J.2
Morales, J.3
Burdett, T.4
Hall, P.5
Junkins, H.6
Parkinson, H.7
-
41
-
-
84899084791
-
Estimating genome-wide significance for whole-genome sequencing studies
-
#x0026;
-
Xu, C., Tachmazidou, I., Walter, K., Ciampi, A., Zeggini, E., & Greenwood, C. M. T. (2014). Estimating genome-wide significance for whole-genome sequencing studies. Genetic Epidemiology, 38(4), 281–290.
-
(2014)
Genetic Epidemiology
, vol.38
, Issue.4
, pp. 281-290
-
-
Xu, C.1
Tachmazidou, I.2
Walter, K.3
Ciampi, A.4
Zeggini, E.5
Greenwood, C.M.T.6
-
42
-
-
84891711868
-
Research ethics: 3 ways to blow the whistle
-
#x0026;
-
Yong, E., Ledford, H., & Van Noorden, R. (2013). Research ethics: 3 ways to blow the whistle. Nature, 503(7477), 454–457.
-
(2013)
Nature
, vol.503
, Issue.7477
, pp. 454-457
-
-
Yong, E.1
Ledford, H.2
Van Noorden, R.3
|