-
1
-
-
2042437650
-
Initial sequencing and analysis of the human genome
-
Lander, E.S. et al. Initial sequencing and analysis of the human genome. Nature 409, 860-921 (2001
-
(2001)
Nature
, vol.409
, pp. 860-921
-
-
Lander, E.S.1
-
2
-
-
13844313862
-
Whole-genome patterns of common DNA variation in three human populations
-
Hinds, D.A. et al. Whole-genome patterns of common DNA variation in three human populations. Science 307, 1072-1079 (2005
-
(2005)
Science
, vol.307
, pp. 1072-1079
-
-
Hinds, D.A.1
-
3
-
-
79959524146
-
A haplotype map of the human genome
-
International HapMap Consortium
-
International HapMap Consortium. A haplotype map of the human genome. Nature 437, 1299-1320 (2005
-
(2005)
Nature
, vol.437
, pp. 1299-1320
-
-
-
4
-
-
35348983887
-
A second generation human haplotype map of over 3.1 million SNPs
-
International HapMap Consortium
-
International HapMap Consortium. A second generation human haplotype map of over 3.1 million SNPs. Nature 449, 851-861 (2007
-
(2007)
Nature
, vol.449
, pp. 851-861
-
-
-
5
-
-
77956331627
-
Integrating common and rare genetic variation in diverse human populations
-
International HapMap 3 Consortium
-
International HapMap 3 Consortium. Integrating common and rare genetic variation in diverse human populations. Nature 467, 52-58 (2010
-
(2010)
Nature
, vol.467
, pp. 52-58
-
-
-
6
-
-
84880920122
-
Bringing genome-wide association findings into clinical use
-
Manolio, T.A. Bringing genome-wide association findings into clinical use. Nat. Rev. Genet. 14, 549-558 (2013
-
(2013)
Nat. Rev. Genet
, vol.14
, pp. 549-558
-
-
Manolio, T.A.1
-
7
-
-
84862909349
-
Five years of gwas discovery
-
Visscher, P.M., Brown, M.A., McCarthy, M.I. & Yang, J. Five years of GWAS discovery. Am. J. Hum. Genet. 90, 7-24 (2012
-
(2012)
Am. J. Hum. Genet
, vol.90
, pp. 7-24
-
-
Visscher, P.M.1
Brown, M.A.2
McCarthy, M.I.3
Yang, J.4
-
8
-
-
77951702343
-
Genetic heterogeneity in human disease
-
McClellan, J. & King, M.-C. Genetic heterogeneity in human disease. Cell 141, 210-217 (2010
-
(2010)
Cell
, vol.141
, pp. 210-217
-
-
McClellan, J.1
King, M.-C.2
-
9
-
-
84855925920
-
Rare and common variants: Twenty arguments
-
Gibson, G. Rare and common variants: Twenty arguments. Nat. Rev. Genet. 13, 135-145 (2011
-
(2011)
Nat. Rev. Genet
, vol.13
, pp. 135-145
-
-
Gibson, G.1
-
10
-
-
84879411643
-
Sequencing studies in human genetics: Design and interpretation
-
Goldstein, D.B. et al. Sequencing studies in human genetics: Design and interpretation. Nat. Rev. Genet. 14, 460-470 (2013
-
(2013)
Nat. Rev. Genet
, vol.14
, pp. 460-470
-
-
Goldstein, D.B.1
-
11
-
-
84872506987
-
Phenotypic impact of genomic structural variation: Insights from and for human disease
-
Weischenfeldt, J., Symmons, O., Spitz, F. & Korbel, J.O. Phenotypic impact of genomic structural variation: Insights from and for human disease. Nat. Rev. Genet. 14, 125-138 (2013
-
(2013)
Nat. Rev. Genet
, vol.14
, pp. 125-138
-
-
Weischenfeldt, J.1
Symmons, O.2
Spitz, F.3
Korbel, J.O.4
-
12
-
-
84863970074
-
De novo mutations in human genetic disease
-
Veltman, J.A. & Brunner, H.G. De novo mutations in human genetic disease. Nat. Rev. Genet. 13, 565-575 (2012
-
(2012)
Nat. Rev. Genet
, vol.13
, pp. 565-575
-
-
Veltman, J.A.1
Brunner, H.G.2
-
13
-
-
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
-
14
-
-
79961091828
-
Demographic history and rare allele sharing among human populations
-
Gravel, S. et al. Demographic history and rare allele sharing among human populations. Proc. Natl. Acad. Sci. USA 108, 11983-11988 (2011
-
(2011)
Proc. Natl. Acad. Sci. USA
, vol.108
, pp. 11983-11988
-
-
Gravel, S.1
-
15
-
-
84857641821
-
Differential confounding of rare and common variants in spatially structured populations
-
Mathieson, I. & McVean, G. Differential confounding of rare and common variants in spatially structured populations. Nat. Genet. 44, 243-246 (2012
-
(2012)
Nat. Genet
, vol.44
, pp. 243-246
-
-
Mathieson, I.1
McVean, G.2
-
16
-
-
84892798985
-
The Genome of the Netherlands: Design, and project goals
-
Boomsma, D.I. et al. The Genome of the Netherlands: Design, and project goals. Eur. J. Hum. Genet. 22, 221-227 (2014
-
(2014)
Eur. J. Hum. Genet
, vol.22
, pp. 221-227
-
-
Boomsma, D.I.1
-
17
-
-
84862979802
-
How to kickstart a national biobanking infrastructure-experiences and prospects of bbmri-nl
-
Brandsma, M. et al. How to kickstart a national biobanking infrastructure-experiences and prospects of BBMRI-NL. Nor. Epidemiol. 21, 143-148 (2012
-
(2012)
Nor. Epidemiol
, vol.21
, pp. 143-148
-
-
Brandsma, M.1
-
18
-
-
79955483667
-
A framework for variation discovery and genotyping using next-generation DNA sequencing data
-
DePristo, M.A. et al. A framework for variation discovery and genotyping using next-generation DNA sequencing data. Nat. Genet. 43, 491-498 (2011
-
(2011)
Nat. Genet
, vol.43
, pp. 491-498
-
-
DePristo, M.A.1
-
19
-
-
84871736050
-
Genotype calling and phasing using next-generation sequencing reads and a haplotype scaffold
-
Menelaou, A. & Marchini, J. Genotype calling and phasing using next-generation sequencing reads and a haplotype scaffold. Bioinformatics 29, 84-91 (2013
-
(2013)
Bioinformatics
, vol.29
, pp. 84-91
-
-
Menelaou, A.1
Marchini, J.2
-
20
-
-
84975795680
-
An integrated map of genetic variation from 1, 092 human genomes
-
1000 Genomes Project Consortium
-
Genomes Project Consortium. An integrated map of genetic variation from 1, 092 human genomes. Nature 491, 56-65 (2012
-
(2012)
Nature
, vol.491
, pp. 56-65
-
-
-
21
-
-
84863116742
-
A systematic survey of loss-of-function variants in human protein-coding genes
-
MacArthur, D.G. et al. A systematic survey of loss-of-function variants in human protein-coding genes. Science 335, 823-828 (2012
-
(2012)
Science
, vol.335
, pp. 823-828
-
-
MacArthur, D.G.1
-
22
-
-
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
-
23
-
-
84861618864
-
Exome sequencing and the genetic basis of complex traits
-
Kiezun, A. et al. Exome sequencing and the genetic basis of complex traits. Nat. Genet. 44, 623-630 (2012
-
(2012)
Nat. Genet
, vol.44
, pp. 623-630
-
-
Kiezun, A.1
-
24
-
-
84884592445
-
Genic intolerance to functional variation and the interpretation of personal genomes
-
Petrovski, S., Wang, Q., Heinzen, E.L., Allen, A.S. & Goldstein, D.B. Genic intolerance to functional variation and the interpretation of personal genomes. PLoS Genet. 9, e1003709 (2013
-
(2013)
PLoS Genet
, vol.9
-
-
Petrovski, S.1
Wang, Q.2
Heinzen, E.L.3
Allen, A.S.4
Goldstein, D.B.5
-
25
-
-
77953446523
-
The human gene mutation database: 2008 update
-
Stenson, P.D. et al. The Human Gene Mutation Database: 2008 update. Genome Med. 1, 13 (2009
-
(2009)
Genome Med
, vol.1
, pp. 13
-
-
Stenson, P.D.1
-
26
-
-
84884905922
-
Where genotype is not predictive of phenotype: Towards an understanding of the molecular basis of reduced penetrance in human inherited disease
-
Cooper, D.N., Krawczak, M., Polychronakos, C., Tyler-Smith, C. & Kehrer-Sawatzki, H. Where genotype is not predictive of phenotype: Towards an understanding of the molecular basis of reduced penetrance in human inherited disease. Hum. Genet. 132, 1077-1130 (2013
-
(2013)
Hum. Genet
, vol.132
, pp. 1077-1130
-
-
Cooper, D.N.1
Krawczak, M.2
Polychronakos, C.3
Tyler-Smith, C.4
Kehrer-Sawatzki, H.5
-
27
-
-
84881612178
-
Large numbers of genetic variants considered to be pathogenic are common in asymptomatic individuals
-
Cassa, C.A., Tong, M.Y. & Jordan, D.M. Large numbers of genetic variants considered to be pathogenic are common in asymptomatic individuals. Hum. Mutat. 34, 1216-1220 (2013
-
(2013)
Hum. Mutat
, vol.34
, pp. 1216-1220
-
-
Cassa, C.A.1
Tong, M.Y.2
Jordan, D.M.3
-
28
-
-
84885295208
-
Actionable, pathogenic incidental findings in 1, 000 participants' exomes
-
Dorschner, M.O. et al. Actionable, pathogenic incidental findings in 1, 000 participants' exomes. Am. J. Hum. Genet. 93, 631-640 (2013
-
(2013)
Am. J. Hum. Genet
, vol.93
, pp. 631-640
-
-
Dorschner, M.O.1
-
29
-
-
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
-
30
-
-
84865208871
-
Rate of de novo mutations and the importance of father's age to disease risk
-
Kong, A. et al. Rate of de novo mutations and the importance of father's age to disease risk. Nature 488, 471-475 (2012
-
(2012)
Nature
, vol.488
, pp. 471-475
-
-
Kong, A.1
-
31
-
-
84871595000
-
Whole-genome sequencing in autism identifies hot spots for de novo germline mutation
-
Michaelson, J.J. et al. Whole-genome sequencing in autism identifies hot spots for de novo germline mutation. Cell 151, 1431-1442 (2012
-
(2012)
Cell
, vol.151
, pp. 1431-1442
-
-
Michaelson, J.J.1
-
32
-
-
67651222400
-
A flexible and accurate genotype imputation method for the next generation of genome-wide association studies
-
Howie, B.N., Donnelly, P. & Marchini, J. A flexible and accurate genotype imputation method for the next generation of genome-wide association studies. PLoS Genet. 5, e1000529 (2009
-
(2009)
PLoS Genet
, vol.5
-
-
Howie, B.N.1
Donnelly, P.2
Marchini, J.3
-
33
-
-
49649084390
-
Correlation between genetic and geographic structure in Europe
-
Lao, O. et al. Correlation between genetic and geographic structure in Europe. Curr. Biol. 18, 1241-1248 (2008
-
(2008)
Curr. Biol
, vol.18
, pp. 1241-1248
-
-
Lao, O.1
-
34
-
-
55549115654
-
Genes mirror geography within Europe
-
Novembre, J. et al. Genes mirror geography within Europe. Nature 456, 98-101 (2008
-
(2008)
Nature
, vol.456
, pp. 98-101
-
-
Novembre, J.1
-
35
-
-
84878314759
-
The geography of recent genetic ancestry across Europe
-
Ralph, P. & Coop, G. The geography of recent genetic ancestry across Europe. PLoS Biol. 11, e1001555 (2013
-
(2013)
PLoS Biol
, vol.11
-
-
Ralph, P.1
Coop, G.2
-
36
-
-
84883685094
-
Estimating and interpreting fst: The impact of rare variants
-
Bhatia, G., Patterson, N., Sankararaman, S. & Price, A.L. Estimating and interpreting FST: The impact of rare variants. Genome Res. 23, 1514-1521 (2013
-
(2013)
Genome Res
, vol.23
, pp. 1514-1521
-
-
Bhatia, G.1
Patterson, N.2
Sankararaman, S.3
Price, A.L.4
-
37
-
-
84868270993
-
Mtdna analysis of global populations support that major population expansions began before neolithic time
-
Zheng, H.-X., Yan, S., Qin, Z.-D. & Jin, L. MtDNA analysis of global populations support that major population expansions began before Neolithic Time. Sci. Rep. 2, 745 (2012
-
(2012)
Sci. Rep
, vol.2
, pp. 745
-
-
Zheng, H.-X.1
Yan, S.2
Qin, Z.-D.3
Jin, L.4
-
38
-
-
84885938427
-
Population structure, migration, and diversifying selection in the netherlands
-
Abdellaoui, A. et al. Population structure, migration, and diversifying selection in the Netherlands. Eur. J. Hum. Genet. 21, 1277-1285 (2013
-
(2013)
Eur. J. Hum. Genet
, vol.21
, pp. 1277-1285
-
-
Abdellaoui, A.1
-
39
-
-
84877852348
-
Clinal distribution of human genomic diversity across the netherlands despite archaeological evidence for genetic discontinuities in dutch population history
-
Lao, O. et al. Clinal distribution of human genomic diversity across the Netherlands despite archaeological evidence for genetic discontinuities in Dutch population history. Investig. Genet. 4, 9 (2013
-
(2013)
Investig. Genet
, vol.4
, pp. 9
-
-
Lao, O.1
-
40
-
-
42649093791
-
Interpreting principal component analyses of spatial population genetic variation
-
Novembre, J. & Stephens, M. Interpreting principal component analyses of spatial population genetic variation. Nat. Genet. 40, 646-649 (2008
-
(2008)
Nat. Genet
, vol.40
, pp. 646-649
-
-
Novembre, J.1
Stephens, M.2
-
41
-
-
59949088494
-
Whole population, genome-wide mapping of hidden relatedness
-
Gusev, A. et al. Whole population, genome-wide mapping of hidden relatedness. Genome Res. 19, 318-326 (2009
-
(2009)
Genome Res
, vol.19
, pp. 318-326
-
-
Gusev, A.1
-
42
-
-
84868450328
-
Length distributions of identity by descent reveal fine-scale demographic history
-
Palamara, P.F., Lencz, T., Darvasi, A. & Pe'er, I. Length distributions of identity by descent reveal fine-scale demographic history. Am. J. Hum. Genet. 91, 809-822 (2012
-
(2012)
Am. J. Hum. Genet
, vol.91
, pp. 809-822
-
-
Palamara, P.F.1
Lencz, T.2
Darvasi, A.3
Pe'er, I.4
-
43
-
-
84874634237
-
Interpreting the role of de novo protein-coding mutations in neuropsychiatric disease
-
Gratten, J., Visscher, P.M., Mowry, B.J. & Wray, N.R. Interpreting the role of de novo protein-coding mutations in neuropsychiatric disease. Nat. Genet. 45, 234-238 (2013
-
(2013)
Nat. Genet
, vol.45
, pp. 234-238
-
-
Gratten, J.1
Visscher, P.M.2
Mowry, B.J.3
Wray, N.R.4
-
44
-
-
84899476119
-
Guidelines for investigating causality of sequence variants in human disease
-
MacArthur, D.G. et al. Guidelines for investigating causality of sequence variants in human disease. Nature 508, 469-476 (2014
-
(2014)
Nature
, vol.508
, pp. 469-476
-
-
MacArthur, D.G.1
-
45
-
-
84864399189
-
Structural haplotypes and recent evolution of the human 17q21.31 region
-
Boettger, L.M., Handsaker, R.E., Zody, M.C. & McCarroll, S.A. Structural haplotypes and recent evolution of the human 17q21.31 region. Nat. Genet. 44, 881-885 (2012
-
(2012)
Nat. Genet
, vol.44
, pp. 881-885
-
-
Boettger, L.M.1
Handsaker, R.E.2
Zody, M.C.3
McCarroll, S.A.4
-
46
-
-
84878802935
-
Imputing amino acid polymorphisms in human leukocyte antigens
-
Jia, X. et al. Imputing amino acid polymorphisms in human leukocyte antigens. PLoS ONE 8, e64683 (2013
-
(2013)
PLoS ONE
, vol.8
-
-
Jia, X.1
-
47
-
-
77949587649
-
Fast and accurate long-read alignment with Burrows-Wheeler transform
-
Li, H. & Durbin, R. Fast and accurate long-read alignment with Burrows-Wheeler transform. Bioinformatics 26, 589-595 (2010
-
(2010)
Bioinformatics
, vol.26
, pp. 589-595
-
-
Li, H.1
Durbin, R.2
-
48
-
-
67649884743
-
Fast and accurate short read alignment with Burrows-Wheeler transform
-
Li, H. & Durbin, R. Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics 25, 1754-1760 (2009
-
(2009)
Bioinformatics
, vol.25
, pp. 1754-1760
-
-
Li, H.1
Durbin, R.2
-
49
-
-
70350694443
-
Pindel: A pattern growth approach to detect break points of large deletions and medium sized insertions from paired-end short reads
-
Ye, K., Schulz, M.H., Long, Q., Apweiler, R. & Ning, Z. Pindel: A pattern growth approach to detect break points of large deletions and medium sized insertions from paired-end short reads. Bioinformatics 25, 2865-2871 (2009
-
(2009)
Bioinformatics
, vol.25
, pp. 2865-2871
-
-
Ye, K.1
Schulz, M.H.2
Long, Q.3
Apweiler, R.4
Ning, Z.5
-
50
-
-
69549116107
-
BreakDancer: An algorithm for high-resolution mapping of genomic structural variation
-
Chen, K. et al. BreakDancer: An algorithm for high-resolution mapping of genomic structural variation. Nat. Methods 6, 677-681 (2009
-
(2009)
Nat. Methods
, vol.6
, pp. 677-681
-
-
Chen, K.1
-
51
-
-
79951970227
-
CNVnator: An approach to discover, genotype, and characterize typical and atypical CNVs from family and population genome sequencing
-
Abyzov, A., Urban, A.E., Snyder, M. & Gerstein, M. CNVnator: An approach to discover, genotype, and characterize typical and atypical CNVs from family and population genome sequencing. Genome Res. 21, 974-984 (2011
-
(2011)
Genome Res
, vol.21
, pp. 974-984
-
-
Abyzov, A.1
Urban, A.E.2
Snyder, M.3
Gerstein, M.4
-
52
-
-
77956113158
-
Facade: A fast and sensitive algorithm for the segmentation and calling of high resolution array cgh data
-
Coe, B.P., Chari, R., MacAulay, C. & Lam, W.L. FACADE: A fast and sensitive algorithm for the segmentation and calling of high resolution array CGH data. Nucleic Acids Res. 38, e157 (2010
-
(2010)
Nucleic Acids Res
, vol.38
-
-
Coe, B.P.1
Chari, R.2
MacAulay, C.3
Lam, W.L.4
-
53
-
-
84900348313
-
Mate-clever: Mendelian-inheritance-Aware discovery and genotyping of midsize and long indels
-
Marschall, T., Hajirasouliha, I. & Schönhuth, A. MATE-CLEVER: Mendelian-inheritance-Aware discovery and genotyping of midsize and long indels. Bioinformatics 29, 3143-3150 (2013
-
(2013)
Bioinformatics
, vol.29
, pp. 3143-3150
-
-
Marschall, T.1
Hajirasouliha, I.2
Schönhuth, A.3
-
54
-
-
79952194317
-
Discovery and genotyping of genome structural polymorphism by sequencing on a population scale
-
Handsaker, R.E., Korn, J.M., Nemesh, J. & McCarroll, S.A. Discovery and genotyping of genome structural polymorphism by sequencing on a population scale. Nat. Genet. 43, 269-276 (2011
-
(2011)
Nat. Genet
, vol.43
, pp. 269-276
-
-
Handsaker, R.E.1
Korn, J.M.2
Nemesh, J.3
McCarroll, S.A.4
-
55
-
-
75649124547
-
De novo assembly of human genomes with massively parallel short read sequencing
-
Li, R. et al. De novo assembly of human genomes with massively parallel short read sequencing. Genome Res. 20, 265-272 (2010
-
(2010)
Genome Res
, vol.20
, pp. 265-272
-
-
Li, R.1
-
56
-
-
0019423856
-
Sequence and organization of the human mitochondrial genome
-
Anderson, S. et al. Sequence and organization of the human mitochondrial genome. Nature 290, 457-465 (1981
-
(1981)
Nature
, vol.290
, pp. 457-465
-
-
Anderson, S.1
-
57
-
-
0032868141
-
Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA
-
Andrews, R.M. et al. Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA. Nat. Genet. 23, 147 (1999
-
(1999)
Nat. Genet
, vol.23
, pp. 147
-
-
Andrews, R.M.1
-
58
-
-
64049089255
-
Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation
-
van Oven, M. & Kayser, M. Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation. Hum. Mutat. 30, E386-E394 (2009
-
(2009)
Hum. Mutat
, vol.30
-
-
Van Oven, M.1
Kayser, M.2
-
59
-
-
77953032930
-
Arlequin suite ver 3.5: A new series of programs to perform population genetics analyses under Linux and Windows
-
Excoffier, L. & Lischer, H.E.L. Arlequin suite ver 3.5: A new series of programs to perform population genetics analyses under Linux and Windows. Mol. Ecol. Resour. 10, 564-567 (2010
-
(2010)
Mol. Ecol. Resour
, vol.10
, pp. 564-567
-
-
Excoffier, L.1
Lischer, H.E.L.2
-
60
-
-
0031955518
-
Base-calling of automated sequencer traces using phred i accuracy assessment
-
Ewing, B., Hillier, L., Wendl, M. & Green, P. Base-calling of automated sequencer traces using Phred. I. Accuracy assessment. Genome Res. 8, 175-185 (1998
-
(1998)
Genome Res
, vol.8
, pp. 175-185
-
-
Ewing, B.1
Hillier, L.2
Wendl, M.3
Green, P.4
-
61
-
-
0031978181
-
Base-calling of automated sequencer traces using phred ii error probabilities
-
Ewing, B. & Green, P. Base-calling of automated sequencer traces using Phred. II. Error probabilities. Genome Res. 8, 186-194 (1998
-
(1998)
Genome Res
, vol.8
, pp. 186-194
-
-
Ewing, B.1
Green, P.2
-
62
-
-
77952973011
-
Recount: Expectation maximization based error correction tool for next generation sequencing data
-
Wijaya, E., Frith, M.C., Suzuki, Y. & Horton, P. Recount: Expectation maximization based error correction tool for next generation sequencing data. Genome Inform. 23, 189-201 (2009
-
(2009)
Genome Inform
, vol.23
, pp. 189-201
-
-
Wijaya, E.1
Frith, M.C.2
Suzuki, Y.3
Horton, P.4
-
63
-
-
0025183708
-
Basic local alignment search tool
-
Altschul, S.F., Gish, W., Miller, W., Myers, E.W. & Lipman, D.J. Basic local alignment search tool. J. Mol. Biol. 215, 403-410 (1990
-
(1990)
J. Mol. Biol
, vol.215
, pp. 403-410
-
-
Altschul, S.F.1
Gish, W.2
Miller, W.3
Myers, E.W.4
Lipman, D.J.5
-
64
-
-
84865530942
-
VAT: A computational framework to functionally annotate variants in personal genomes within a cloud-computing environment
-
Habegger, L. et al. VAT: A computational framework to functionally annotate variants in personal genomes within a cloud-computing environment. Bioinformatics 28, 2267-2269 (2012
-
(2012)
Bioinformatics
, vol.28
, pp. 2267-2269
-
-
Habegger, L.1
-
65
-
-
13444270842
-
SNPeffect: A database mapping molecular phenotypic effects of human non-synonymous coding SNPs
-
Reumers, J. et al. SNPeffect: A database mapping molecular phenotypic effects of human non-synonymous coding SNPs. Nucleic Acids Res. 33, D527-D532 (2005
-
(2005)
Nucleic Acids Res
, vol.33
-
-
Reumers, J.1
-
66
-
-
84878799611
-
Predicting functional effect of human missense mutations using polyphen-2
-
Chapter 7 Unit 7.20
-
Adzhubei, I., Jordan, D.M. & Sunyaev, S.R. Predicting functional effect of human missense mutations using PolyPhen-2. Curr. Protoc. Hum. Genet. Chapter 7, Unit 7.20 (2013
-
(2013)
Curr. Protoc. Hum. Genet
-
-
Adzhubei, I.1
Jordan, D.M.2
Sunyaev, S.R.3
-
67
-
-
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
-
68
-
-
84891767394
-
RefSeq: An update on mammalian reference sequences
-
Pruitt, K.D. et al. RefSeq: An update on mammalian reference sequences. Nucleic Acids Res. 42, D756-D763 (2014
-
(2014)
Nucleic Acids Res
, vol.42
-
-
Pruitt, K.D.1
-
69
-
-
71149112981
-
Simultaneous genotype calling and haplotype phasing improves genotype accuracy and reduces false-positive associations for genome-wide association studies
-
Browning, B.L. & Yu, Z. Simultaneous genotype calling and haplotype phasing improves genotype accuracy and reduces false-positive associations for genome-wide association studies. Am. J. Hum. Genet. 85, 847-861 (2009
-
(2009)
Am. J. Hum. Genet
, vol.85
, pp. 847-861
-
-
Browning, B.L.1
Yu, Z.2
-
70
-
-
84856478855
-
A linear complexity phasing method for thousands of genomes
-
Delaneau, O., Marchini, J. & Zagury, J.-F. A linear complexity phasing method for thousands of genomes. Nat. Methods 9, 179-181 (2012
-
(2012)
Nat. Methods
, vol.9
, pp. 179-181
-
-
Delaneau, O.1
Marchini, J.2
Zagury, J.-F.3
-
71
-
-
74949138753
-
Human genome sequencing using unchained base reads on self-Assembling DNA nanoarrays
-
Drmanac, R. et al. Human genome sequencing using unchained base reads on self-Assembling DNA nanoarrays. Science 327, 78-81 (2010
-
(2010)
Science
, vol.327
, pp. 78-81
-
-
Drmanac, R.1
-
72
-
-
80052628820
-
Population based epidemiology of amyotrophic lateral sclerosis using capture-recapture methodology
-
Huisman, M.H.B. et al. Population based epidemiology of amyotrophic lateral sclerosis using capture-recapture methodology. J. Neurol. Neurosurg. Psychiatry 82, 1165-1170 (2011
-
(2011)
J. Neurol. Neurosurg. Psychiatry
, vol.82
, pp. 1165-1170
-
-
Huisman, M.H.B.1
-
73
-
-
84863845193
-
Genotype imputation with thousands of genomes
-
Howie, B., Marchini, J& Stephens, M. Genotype imputation with thousands of genomes. G3 1, 457-470 (2011
-
(2011)
G3
, vol.1
, pp. 457-470
-
-
Howie, B.1
Marchini, J.2
Stephens, M.3
-
74
-
-
33746512512
-
Principal components analysis corrects for stratification in genome-wide association studies
-
Price, A.L. et al. Principal components analysis corrects for stratification in genome-wide association studies. Nat. Genet. 38, 904-909 (2006
-
(2006)
Nat. Genet
, vol.38
, pp. 904-909
-
-
Price, A.L.1
-
75
-
-
79851497145
-
A fast, powerful method for detecting identity by descent
-
Browning, B.L. & Browning, S.R. A fast, powerful method for detecting identity by descent. Am. J. Hum. Genet. 88, 173-182 (2011
-
(2011)
Am. J. Hum. Genet
, vol.88
, pp. 173-182
-
-
Browning, B.L.1
Browning, S.R.2
-
76
-
-
84879911406
-
Inference of historical migration rates via haplotype sharing
-
Palamara, P.F. & Pe'er, I. Inference of historical migration rates via haplotype sharing. Bioinformatics 29, i180-i188 (2013
-
(2013)
Bioinformatics
, vol.29
-
-
Palamara, P.F.1
Pe'er, I.2
-
77
-
-
84944178665
-
Hierarchical grouping to optimize an objective function
-
Ward, J.H. Hierarchical grouping to optimize an objective function. J. Am. Stat. Assoc. 58, 236-244 (1963
-
(1963)
J. Am. Stat. Assoc
, vol.58
, pp. 236-244
-
-
Ward, J.H.1
-
78
-
-
84868450328
-
Length distributions of identity by descent reveal fine-scale demographic history
-
Palamara, P.F., Lencz, T., Darvasi, A. & Pe'er, I. Length distributions of identity by descent reveal fine-scale demographic history. Am. J. Hum. Genet. 91, 809-822 (2012
-
(2012)
Am. J. Hum. Genet
, vol.91
, pp. 809-822
-
-
Palamara, P.F.1
Lencz, T.2
Darvasi, A.3
Pe'er, I.4
-
79
-
-
34548292504
-
PLINK: A tool set for whole-genome association and population-based linkage analyses
-
Purcell, S. et al. PLINK: A tool set for whole-genome association and population-based linkage analyses. Am. J. Hum. Genet. 81, 559-575 (2007
-
(2007)
Am. J. Hum. Genet
, vol.81
, pp. 559-575
-
-
Purcell, S.1
-
80
-
-
0021643790
-
Covariances of relatives stemming from a population undergoing mixed self and random mating
-
Cockerham, C.C. & Weir, B.S. Covariances of relatives stemming from a population undergoing mixed self and random mating. Biometrics 40, 157-164 (1984
-
(1984)
Biometrics
, vol.40
, pp. 157-164
-
-
Cockerham, C.C.1
Weir, B.S.2
|