-
1
-
-
77249155642
-
Complete Khoisan and Bantu genomes from southern Africa
-
pmid: 20164927
-
S. C. Schuster et al., Complete Khoisan and Bantu genomes from southern Africa. Nature 463, 943-947 (2010). doi: 10.1038/nature08795; pmid: 20164927
-
(2010)
Nature
, vol.463
, pp. 943-947
-
-
Schuster, S.C.1
-
2
-
-
84864407091
-
Structural diversity and African origin of the 17q21.31 inversion polymorphism
-
pmid: 22751100
-
K. M. Steinberg et al., Structural diversity and African origin of the 17q21.31 inversion polymorphism. Nat. Genet. 44, 872-880 (2012). doi: 10.1038/ng.2335; pmid: 22751100
-
(2012)
Nat. Genet.
, vol.44
, pp. 872-880
-
-
Steinberg, K.M.1
-
3
-
-
84892684329
-
Reconstructing Native American migrations from whole-genome and whole-exome data
-
pmid: 24385924
-
S. Gravel et al., Reconstructing Native American migrations from whole-genome and whole-exome data. PLOS Genet. 9, e1004023 (2013). pmid: 24385924
-
(2013)
PLOS Genet.
, vol.9
-
-
Gravel, S.1
-
4
-
-
84907279761
-
The genetic prehistory of the New World Arctic
-
pmid: 25170159
-
M. Raghavan et al., The genetic prehistory of the New World Arctic. Science 345, 1255832 (2014). doi: 10.1126/science.1255832; pmid: 25170159
-
(2014)
Science
, vol.345
-
-
Raghavan, M.1
-
5
-
-
77952136530
-
A draft sequence of the Neandertal genome
-
pmid: 20448178
-
R. E. Green et al., A draft sequence of the Neandertal genome. Science 328, 710-722 (2010). doi: 10.1126/science.1188021; pmid: 20448178
-
(2010)
Science
, vol.328
, pp. 710-722
-
-
Green, R.E.1
-
6
-
-
78650850475
-
Genetic history of an archaic hominin group from Denisova Cave in Siberia
-
pmid: 21179161
-
D. Reich et al., Genetic history of an archaic hominin group from Denisova Cave in Siberia. Nature 468, 1053-1060 (2010). doi: 10.1038/nature09710; pmid: 21179161
-
(2010)
Nature
, vol.468
, pp. 1053-1060
-
-
Reich, D.1
-
7
-
-
76749141381
-
Ancient human genome sequence of an extinct Palaeo-Eskimo
-
pmid: 20148029
-
M. Rasmussen et al., Ancient human genome sequence of an extinct Palaeo-Eskimo. Nature 463, 757-762 (2010). pmid: 20148029
-
(2010)
Nature
, vol.463
, pp. 757-762
-
-
Rasmussen, M.1
-
8
-
-
79959725029
-
Variation in genome-wide mutation rates within and between human families
-
pmid: 21666693
-
D. F. Conrad et al., Variation in genome-wide mutation rates within and between human families. Nat. Genet. 43, 712-714 (2011). doi: 10.1038/ng.862; pmid: 21666693
-
(2011)
Nat. Genet.
, vol.43
, pp. 712-714
-
-
Conrad, D.F.1
-
9
-
-
84868214089
-
Estimating the human mutation rate using autozygosity in a founder population
-
pmid: 23001126
-
C. D. Campbell et al., Estimating the human mutation rate using autozygosity in a founder population. Nat. Genet. 44, 1277-1281 (2012). doi: 10.1038/ng.2418; pmid: 23001126
-
(2012)
Nat. Genet.
, vol.44
, pp. 1277-1281
-
-
Campbell, C.D.1
-
10
-
-
84865208871
-
Rate of de novo mutations and the importance of father's age to disease risk
-
pmid: 22914163
-
A. Kong et al., Rate of de novo mutations and the importance of father's age to disease risk. Nature 488, 471-475 (2012). doi: 10.1038/nature11396; pmid: 22914163
-
(2012)
Nature
, vol.488
, pp. 471-475
-
-
Kong, A.1
-
11
-
-
84872143942
-
Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants
-
pmid:23201682
-
W. Fu et al., Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants. Nature 493, 216-220 (2013). doi: 10.1038/nature11690; pmid:23201682
-
(2013)
Nature
, vol.493
, pp. 216-220
-
-
Fu, W.1
-
12
-
-
84863556835
-
Evolution and functional impact of rare coding variation from deep sequencing of human exomes
-
pmid: 22604720
-
J. A. Tennessen et al., Evolution and functional impact of rare coding variation from deep sequencing of human exomes. Science 337, 64-69 (2012). doi: 10.1126/science.1219240; pmid: 22604720
-
(2012)
Science
, vol.337
, pp. 64-69
-
-
Tennessen, J.A.1
-
13
-
-
84883682103
-
Evolution and diversity of copy number variation in the great ape lineage
-
pmid: 23825009
-
P. H. Sudmant et al., Evolution and diversity of copy number variation in the great ape lineage. Genome Res. 23, 1373-1382 (2013). doi: 10.1101/gr.158543.113; pmid: 23825009
-
(2013)
Genome Res.
, vol.23
, pp. 1373-1382
-
-
Sudmant, P.H.1
-
14
-
-
60149083509
-
A burst of segmental duplications in the genome of the African great ape ancestor
-
pmid: 19212409
-
T. Marques-Bonet et al., A burst of segmental duplications in the genome of the African great ape ancestor. Nature 457, 877-881 (2009). pmid: 19212409
-
(2009)
Nature
, vol.457
, pp. 877-881
-
-
Marques-Bonet, T.1
-
15
-
-
38849126088
-
Recurrent 16p11.2 microdeletions in autism
-
pmid: 18156158
-
R. A. Kumar et al., Recurrent 16p11.2 microdeletions in autism. Hum. Mol. Genet. 17, 628-638 (2008). doi: 10.1093/hmg/ddm376; pmid: 18156158
-
(2008)
Hum. Mol. Genet.
, vol.17
, pp. 628-638
-
-
Kumar, R.A.1
-
16
-
-
39749154724
-
A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures
-
pmid: 18278044
-
A. J. Sharp et al., A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures. Nat. Genet. 40, 322-328 (2008). pmid: 18278044
-
(2008)
Nat. Genet.
, vol.40
, pp. 322-328
-
-
Sharp, A.J.1
-
17
-
-
3242808027
-
Large-scale copy number polymorphism in the human genome
-
pmid: 15273396
-
J. Sebat et al., Large-scale copy number polymorphism in the human genome. Science 305, 525-528 (2004). doi: 10.1126/science.1098918; pmid: 15273396
-
(2004)
Science
, vol.305
, pp. 525-528
-
-
Sebat, J.1
-
18
-
-
39049163023
-
Association between microdeletion and microduplication at 16p11.2 and autism
-
pmid: 18184952
-
L. A. Weiss et al., Association between microdeletion and microduplication at 16p11.2 and autism. N. Engl. J. Med. 358, 667-675 (2008). doi: 10.1056/NEJMoa075974; pmid: 18184952
-
(2008)
N. Engl. J. Med.
, vol.358
, pp. 667-675
-
-
Weiss, L.A.1
-
19
-
-
29444457877
-
Common deletion polymorphisms in the human genome
-
pmid: 16468122
-
S. A. McCarroll et al., Common deletion polymorphisms in the human genome. Nat. Genet. 38, 86-92 (2006). doi: 10.1038/ng1696; pmid: 16468122
-
(2006)
Nat. Genet.
, vol.38
, pp. 86-92
-
-
McCarroll, S.A.1
-
20
-
-
52949141845
-
Integrated detection and population-genetic analysis of SNPs and copy number variation
-
pmid: 18776908
-
S. A. McCarroll et al., Integrated detection and population-genetic analysis of SNPs and copy number variation. Nat. Genet. 40, 1166-1174 (2008). doi: 10.1038/ng.238; pmid: 18776908
-
(2008)
Nat. Genet.
, vol.40
, pp. 1166-1174
-
-
McCarroll, S.A.1
-
21
-
-
77950461601
-
Origins and functional impact of copy number variation in the human genome
-
pmid: 19812545
-
D. F. Conrad et al., Origins and functional impact of copy number variation in the human genome. Nature 464, 704-712 (2010). doi: 10.1038/nature08516; pmid: 19812545
-
(2010)
Nature
, vol.464
, pp. 704-712
-
-
Conrad, D.F.1
-
22
-
-
39749197456
-
Genotype, haplotype and copy-number variation in worldwide human populations
-
pmid: 18288195
-
M. Jakobsson et al., Genotype, haplotype and copy-number variation in worldwide human populations. Nature 451, 998-1003 (2008).pmid: 18288195
-
(2008)
Nature
, vol.451
, pp. 998-1003
-
-
Jakobsson, M.1
-
23
-
-
62649088108
-
Population analysis of large copy number variants and hotspots of human genetic disease
-
pmid: 19166990
-
A. Itsara et al., Population analysis of large copy number variants and hotspots of human genetic disease. Am. J. Hum. Genet. 84, 148-161 (2009). doi: 10.1016/j.ajhg.2008.12.014; pmid: 19166990
-
(2009)
Am. J. Hum. Genet.
, vol.84
, pp. 148-161
-
-
Itsara, A.1
-
25
-
-
84892365780
-
The complete genome sequence of a Neanderthal from the Altai Mountains
-
pmid: 24352235
-
K. Prüfer et al., The complete genome sequence of a Neanderthal from the Altai Mountains. Nature 505, 43-49 (2014). doi: 10.1038/nature12886; pmid: 24352235
-
(2014)
Nature
, vol.505
, pp. 43-49
-
-
Prüfer, K.1
-
26
-
-
84867331947
-
A high-coverage genome sequence from an archaic Denisovan individual
-
pmid: 22936568
-
M. Meyer et al., A high-coverage genome sequence from an archaic Denisovan individual. Science 338, 222-226 (2012). pmid: 22936568
-
(2012)
Science
, vol.338
, pp. 222-226
-
-
Meyer, M.1
-
27
-
-
84975804424
-
Mapping copy number variation by population-scale genome sequencing
-
pmid: 21293372
-
R. E. Mills et al., Mapping copy number variation by population-scale genome sequencing. Nature 470, 59-65 (2011). doi: 10.1038/nature09708; pmid: 21293372
-
(2011)
Nature
, vol.470
, pp. 59-65
-
-
Mills, R.E.1
-
28
-
-
80052260252
-
A copy number variation morbidity map of developmental delay
-
pmid: 21841781
-
G. M. Cooper et al., A copy number variation morbidity map of developmental delay. Nat. Genet. 43, 838-846 (2011). doi: 10.1038/ng.909; pmid: 21841781
-
(2011)
Nat. Genet.
, vol.43
, pp. 838-846
-
-
Cooper, G.M.1
-
29
-
-
33751329250
-
Global variation in copy number in the human genome
-
pmid: 17122850
-
R. Redon et al., Global variation in copy number in the human genome. Nature 444, 444-454 (2006). doi: 10.1038/nature05329; pmid: 17122850
-
(2006)
Nature
, vol.444
, pp. 444-454
-
-
Redon, R.1
-
30
-
-
31144434817
-
Constant darkness is a circadian metabolic signal in mammals
-
pmid: 16421573
-
J. Zhang, K. Kaasik, M. R. Blackburn, C. C. Lee, Constant darkness is a circadian metabolic signal in mammals. Nature 439, 340-343 (2006). doi: 10.1038/nature04368; pmid: 16421573
-
(2006)
Nature
, vol.439
, pp. 340-343
-
-
Zhang, J.1
Kaasik, K.2
Blackburn, M.R.3
Lee, C.C.4
-
31
-
-
84891856920
-
Haptoglobin (HP) and Haptoglobin-related protein (HPR) copy number variation, natural selection, and trypanosomiasis
-
pmid: 24005574
-
R. J. Hardwick et al., Haptoglobin (HP) and Haptoglobin-related protein (HPR) copy number variation, natural selection, and trypanosomiasis. Hum. Genet. 133, 69-83 (2014). doi: 10.1007/s00439-013-1352-x; pmid: 24005574
-
(2014)
Hum. Genet.
, vol.133
, pp. 69-83
-
-
Hardwick, R.J.1
-
32
-
-
67249117049
-
Potential etiologic and functional implications of genome-wide association loci for human diseases and traits
-
pmid: 19474294
-
L. A. Hindorff et al., Potential etiologic and functional implications of genome-wide association loci for human diseases and traits. Proc. Natl. Acad. Sci. U.S.A. 106, 9362-9367 (2009). doi: 10.1073/pnas.0903103106; pmid: 19474294
-
(2009)
Proc. Natl. Acad. Sci. U.S.A.
, vol.106
, pp. 9362-9367
-
-
Hindorff, L.A.1
-
33
-
-
84874069538
-
Identifying recent adaptations in large-scale genomic data
-
pmid: 23415221
-
S. R. Grossman et al., Identifying recent adaptations in large-scale genomic data. Cell 152, 703-713 (2013). doi: 10.1016/j.cell.2013.01.035; pmid: 23415221
-
(2013)
Cell
, vol.152
, pp. 703-713
-
-
Grossman, S.R.1
-
34
-
-
0033916868
-
The mosaic structure of human pericentromeric DNA: A strategy for characterizing complex regions of the human genome
-
pmid: 10854415
-
J. E. Horvath, S. Schwartz, E. E. Eichler, The mosaic structure of human pericentromeric DNA: A strategy for characterizing complex regions of the human genome. Genome Res. 10, 839-852 (2000). doi: 10.1101/gr.10.6.839; pmid: 10854415
-
(2000)
Genome Res.
, vol.10
, pp. 839-852
-
-
Horvath, J.E.1
Schwartz, S.2
Eichler, E.E.3
-
35
-
-
0037837485
-
Genome-wide detection of segmental duplications and potential assembly errors in the human genome sequence
-
pmid: 12702206
-
J. Cheung et al., Genome-wide detection of segmental duplications and potential assembly errors in the human genome sequence. Genome Biol. 4, R25 (2003). doi: 10.1186/gb-2003-4-4-r25; pmid: 12702206
-
(2003)
Genome Biol.
, vol.4
, pp. R25
-
-
Cheung, J.1
-
36
-
-
84864609288
-
Copy number variation detection and genotyping from exome sequence data
-
pmid: 22585873
-
N. Krumm et al., Copy number variation detection and genotyping from exome sequence data. Genome Res. 22, 1525-1532 (2012). doi: 10.1101/gr.138115.112; pmid: 22585873
-
(2012)
Genome Res.
, vol.22
, pp. 1525-1532
-
-
Krumm, N.1
-
37
-
-
84867280219
-
Discovery and statistical genotyping of copy-number variation from whole-exome sequencing depth
-
pmid: 23040492
-
M. Fromer et al., Discovery and statistical genotyping of copy-number variation from whole-exome sequencing depth. Am. J. Hum. Genet. 91, 597-607 (2012). doi: 10.1016/j.ajhg.2012.08.005; pmid: 23040492
-
(2012)
Am. J. Hum. Genet.
, vol.91
, pp. 597-607
-
-
Fromer, M.1
-
38
-
-
84924666082
-
Deciphering Developmental Disorders Study, Large-scale discovery of novel genetic causes of developmental disorders
-
pmid: 25533962
-
Deciphering Developmental Disorders Study, Large-scale discovery of novel genetic causes of developmental disorders. Nature 519, 223-228 (2015). pmid: 25533962
-
(2015)
Nature
, vol.519
, pp. 223-228
-
-
-
39
-
-
84863116742
-
A systematic survey of loss-of-function variants in human protein-coding genes
-
pmid: 22344438
-
D. G. MacArthur et al., A systematic survey of loss-of-function variants in human protein-coding genes. Science 335, 823-828 (2012). doi: 10.1126/science.1215040 pmid: 22344438
-
(2012)
Science
, vol.335
, pp. 823-828
-
-
MacArthur, D.G.1
-
40
-
-
84921818763
-
Characteristics of neutral and deleterious protein-coding variation among individuals and populations
-
pmid: 25279984
-
W. Fu, R. M. Gittelman, M. J. Bamshad, J. M. Akey, Characteristics of neutral and deleterious protein-coding variation among individuals and populations. Am. J. Hum. Genet. 95, 421-436 (2014). doi: 10.1016/j.ajhg.2014.09.006; pmid: 25279984
-
(2014)
Am. J. Hum. Genet.
, vol.95
, pp. 421-436
-
-
Fu, W.1
Gittelman, R.M.2
Bamshad, M.J.3
Akey, J.M.4
-
41
-
-
84926169268
-
No evidence that selection has been less effective at removing deleterious mutations in Europeans than in Africans
-
pmid: 25581429
-
R. Do et al., No evidence that selection has been less effective at removing deleterious mutations in Europeans than in Africans. Nat. Genet. 47, 126-131 (2015). doi: 10.1038/ng.3186; pmid: 25581429
-
(2015)
Nat. Genet.
, vol.47
, pp. 126-131
-
-
Do, R.1
-
42
-
-
84895867277
-
The deleterious mutation load is insensitive to recent population history
-
pmid: 24509481
-
Y. B. Simons, M. C. Turchin, J. K. Pritchard, G. Sella, The deleterious mutation load is insensitive to recent population history. Nat. Genet. 46, 220-224 (2014). doi: 10.1038/ng.2896; pmid: 24509481
-
(2014)
Nat. Genet.
, vol.46
, pp. 220-224
-
-
Simons, Y.B.1
Turchin, M.C.2
Pritchard, J.K.3
Sella, G.4
-
43
-
-
79952474641
-
Population-genetic properties of differentiated human copy-number polymorphisms
-
pmid: 21397061
-
C. D. Campbell et al., Population-genetic properties of differentiated human copy-number polymorphisms. Am. J. Hum. Genet. 88, 317-332 (2011). doi: 10.1016/j.ajhg.2011.02.004; pmid: 21397061
-
(2011)
Am. J. Hum. Genet.
, vol.88
, pp. 317-332
-
-
Campbell, C.D.1
-
44
-
-
33746513094
-
Linkage disequilibrium and heritability of copy-number polymorphisms within duplicated regions of the human genome
-
pmid: 16826518
-
D. P. Locke et al., Linkage disequilibrium and heritability of copy-number polymorphisms within duplicated regions of the human genome. Am. J. Hum. Genet. 79, 275-290 (2006). doi: 10.1086/505653; pmid: 16826518
-
(2006)
Am. J. Hum. Genet.
, vol.79
, pp. 275-290
-
-
Locke, D.P.1
-
45
-
-
0021979069
-
Hypervariable 'minisatellite' regions in human DNA
-
pmid: 3856104
-
A. J. Jeffreys, V. Wilson, S. L. Thein, Hypervariable 'minisatellite' regions in human DNA. Nature 314, 67-73 (1985). doi: 10.1038/314067a0; pmid: 3856104
-
(1985)
Nature
, vol.314
, pp. 67-73
-
-
Jeffreys, A.J.1
Wilson, V.2
Thein, S.L.3
-
46
-
-
84899986143
-
Maternal history of Oceania from complete mtDNA genomes: Contrasting ancient diversity with recent homogenization due to the Austronesian expansion
-
pmid: 24726474
-
A. T. Duggan et al., Maternal history of Oceania from complete mtDNA genomes: Contrasting ancient diversity with recent homogenization due to the Austronesian expansion. Am. J. Hum. Genet. 94, 721-733 (2014). doi: 10.1016/j.ajhg.2014.03.014; pmid: 24726474
-
(2014)
Am. J. Hum. Genet.
, vol.94
, pp. 721-733
-
-
Duggan, A.T.1
-
47
-
-
84936762210
-
Replicated linear association between DUF1220 copy number and severity of social impairment in autism
-
pmid: 25758905
-
J. M. Davis, V. B. Searles Quick, J. M. Sikela, Replicated linear association between DUF1220 copy number and severity of social impairment in autism. Hum. Genet. 134, 569-575 (2015). doi: 10.1007/s00439-015-1537-6; pmid: 25758905
-
(2015)
Hum. Genet.
, vol.134
, pp. 569-575
-
-
Davis, J.M.1
Searles Quick, V.B.2
Sikela, J.M.3
-
48
-
-
79952460642
-
DPY19L2 deletion as a major cause of globozoospermia
-
pmid: 21397063
-
I. Koscinski et al., DPY19L2 deletion as a major cause of globozoospermia. Am. J. Hum. Genet. 88, 344-350 (2011). pmid: 21397063
-
(2011)
Am. J. Hum. Genet.
, vol.88
, pp. 344-350
-
-
Koscinski, I.1
-
49
-
-
80053365601
-
Glutamatergic and dopaminergic neurons mediate anxiogenic and anxiolytic effects of CRHR1
-
pmid: 21885734
-
D. Refojo et al., Glutamatergic and dopaminergic neurons mediate anxiogenic and anxiolytic effects of CRHR1. Science 333, 1903-1907 (2011). pmid: 21885734
-
(2011)
Science
, vol.333
, pp. 1903-1907
-
-
Refojo, D.1
-
50
-
-
50449091647
-
Deletion polymorphism upstream of IRGM associated with altered IRGM expression and Crohn's disease
-
pmid: 19165925
-
S. A. McCarroll et al., Deletion polymorphism upstream of IRGM associated with altered IRGM expression and Crohn's disease. Nat. Genet. 40, 1107-1112 (2008). doi: 10.1038/ng.215; pmid: 19165925
-
(2008)
Nat. Genet.
, vol.40
, pp. 1107-1112
-
-
McCarroll, S.A.1
-
51
-
-
33847392178
-
Transferrin receptor 1 is a cellular receptor for New World haemorrhagic fever arenaviruses
-
pmid: 17287727
-
S. R. Radoshitzky et al., Transferrin receptor 1 is a cellular receptor for New World haemorrhagic fever arenaviruses. Nature 446, 92-96 (2007). doi: 10.1038/nature05539; pmid: 17287727
-
(2007)
Nature
, vol.446
, pp. 92-96
-
-
Radoshitzky, S.R.1
|