-
1
-
-
0033870688
-
When did the human population size start increasing
-
1 Wall, J.D., Przeworski, M., When did the human population size start increasing. Genetics 155 (2000), 1865–1874.
-
(2000)
Genetics
, vol.155
, pp. 1865-1874
-
-
Wall, J.D.1
Przeworski, M.2
-
2
-
-
29444451610
-
Interrogating multiple aspects of variation in a full resequencing data set to infer human population size changes
-
2 Voight, B.F., Adams, A.M., Frisse, L.A., Qian, Y., Hudson, R.R., Di Rienzo, A., Interrogating multiple aspects of variation in a full resequencing data set to infer human population size changes. Proc Natl Acad Sci U S A 102 (2005), 18508–18513.
-
(2005)
Proc Natl Acad Sci U S A
, vol.102
, pp. 18508-18513
-
-
Voight, B.F.1
Adams, A.M.2
Frisse, L.A.3
Qian, Y.4
Hudson, R.R.5
Di Rienzo, A.6
-
3
-
-
34748819978
-
Measurement of the human allele frequency spectrum demonstrates greater genetic drift in East Asians than in Europeans
-
3 Keinan, A., Mullikin, J.C., Patterson, N., Reich, D., Measurement of the human allele frequency spectrum demonstrates greater genetic drift in East Asians than in Europeans. Nat Genet 39 (2007), 1251–1255.
-
(2007)
Nat Genet
, vol.39
, pp. 1251-1255
-
-
Keinan, A.1
Mullikin, J.C.2
Patterson, N.3
Reich, D.4
-
4
-
-
84863556835
-
Evolution and functional impact of rare coding variation from deep sequencing of human exomes
-
4 Tennessen, J.A., Bigham, A.W., O'Connor, T.D., Fu, W., Kenny, E.E., Gravel, S., McGee, S., Do, R., Liu, X., Jun, G., et al. Evolution and functional impact of rare coding variation from deep sequencing of human exomes. Science 337 (2012), 64–69.
-
(2012)
Science
, vol.337
, pp. 64-69
-
-
Tennessen, J.A.1
Bigham, A.W.2
O'Connor, T.D.3
Fu, W.4
Kenny, E.E.5
Gravel, S.6
McGee, S.7
Do, R.8
Liu, X.9
Jun, G.10
-
5
-
-
78650037203
-
Deep resequencing reveals excess rare recent variants consistent with explosive population growth
-
5 Coventry, A., Bull-Otterson, L.M., Liu, X., Clark, A.G., Maxwell, T.J., Crosby, J., Hixson, J.E., Rea, T.J., Muzny, D.M., Lewis, L.R., et al. Deep resequencing reveals excess rare recent variants consistent with explosive population growth. Nat Commun, 1, 2010, 131.
-
(2010)
Nat Commun
, vol.1
, pp. 131
-
-
Coventry, A.1
Bull-Otterson, L.M.2
Liu, X.3
Clark, A.G.4
Maxwell, T.J.5
Crosby, J.6
Hixson, J.E.7
Rea, T.J.8
Muzny, D.M.9
Lewis, L.R.10
-
6
-
-
80052825195
-
The functional spectrum of low-frequency coding variation
-
6 Marth, G.T., Yu, F., Indap, A.R., Garimella, K., Gravel, S., Leong, W.F., Tyler-Smith, C., Bainbridge, M., Blackwell, T., Zheng-Bradley, X., et al. The functional spectrum of low-frequency coding variation. Genome Biol, 12, 2011, R84.
-
(2011)
Genome Biol
, vol.12
, pp. R84
-
-
Marth, G.T.1
Yu, F.2
Indap, A.R.3
Garimella, K.4
Gravel, S.5
Leong, W.F.6
Tyler-Smith, C.7
Bainbridge, M.8
Blackwell, T.9
Zheng-Bradley, X.10
-
7
-
-
84860817223
-
Recent explosive human population growth has resulted in an excess of rare genetic variants
-
7 Keinan, A., Clark, A.G., Recent explosive human population growth has resulted in an excess of rare genetic variants. Science 336 (2012), 740–743.
-
(2012)
Science
, vol.336
, pp. 740-743
-
-
Keinan, A.1
Clark, A.G.2
-
8
-
-
84863541347
-
An abundance of rare functional variants in 202 drug target genes sequenced in 14,002 people
-
8 Nelson, M.R., Wegmann, D., Ehm, M.G., Kessner, D., St Jean, P., Verzilli, C., Shen, J., Tang, Z., Bacanu, S.A., Fraser, D., et al. An abundance of rare functional variants in 202 drug target genes sequenced in 14,002 people. Science 337 (2012), 100–104.
-
(2012)
Science
, vol.337
, pp. 100-104
-
-
Nelson, M.R.1
Wegmann, D.2
Ehm, M.G.3
Kessner, D.4
St Jean, P.5
Verzilli, C.6
Shen, J.7
Tang, Z.8
Bacanu, S.A.9
Fraser, D.10
-
9
-
-
84872143942
-
Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants
-
9 Fu, W., O'Connor, T.D., Jun, G., Kang, H.M., Abecasis, G., Leal, S.M., Gabriel, S., Rieder, M.J., Altshuler, D., Shendure, J., et al. Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants. Nature 493 (2013), 216–220.
-
(2013)
Nature
, vol.493
, pp. 216-220
-
-
Fu, W.1
O'Connor, T.D.2
Jun, G.3
Kang, H.M.4
Abecasis, G.5
Leal, S.M.6
Gabriel, S.7
Rieder, M.J.8
Altshuler, D.9
Shendure, J.10
-
10
-
-
84884681237
-
Whole-exome sequencing reveals a rapid change in the frequency of rare functional variants in a founding population of humans
-
10 Casals, F., Hodgkinson, A., Hussin, J., Idaghdour, Y., Bruat, V., de Maillard, T., Grenier, J.-C., Gbeha, E., Hamdan, F.F., Girard, S., et al. Whole-exome sequencing reveals a rapid change in the frequency of rare functional variants in a founding population of humans. PLoS Genet, 9, 2013, e1003815.
-
(2013)
PLoS Genet
, vol.9
, pp. e1003815
-
-
Casals, F.1
Hodgkinson, A.2
Hussin, J.3
Idaghdour, Y.4
Bruat, V.5
de Maillard, T.6
Grenier, J.-C.7
Gbeha, E.8
Hamdan, F.F.9
Girard, S.10
-
11
-
-
84917712273
-
Sequencing an Ashkenazi reference panel supports population-targeted personal genomics and illuminates Jewish and European origins
-
11 Carmi, S., Hui, K.Y., Kochav, E., Liu, X., Xue, J., Grady, F., Guha, S., Upadhyay, K., Ben-Avraham, D., Mukherjee, S., et al. Sequencing an Ashkenazi reference panel supports population-targeted personal genomics and illuminates Jewish and European origins. Nat Commun, 5, 2014.
-
(2014)
Nat Commun
, vol.5
-
-
Carmi, S.1
Hui, K.Y.2
Kochav, E.3
Liu, X.4
Xue, J.5
Grady, F.6
Guha, S.7
Upadhyay, K.8
Ben-Avraham, D.9
Mukherjee, S.10
-
12
-
-
84905460411
-
Distribution and medical impact of loss-of-function variants in the Finnish founder population
-
12 Lim, E.T., Würtz, P., Havulinna, A.S., Palta, P., Tukiainen, T., Rehnström, K., Esko, T., Mägi, R., Inouye, M., Lappalainen, T., et al. Distribution and medical impact of loss-of-function variants in the Finnish founder population. PLoS Genet, 10, 2014, e1004494.
-
(2014)
PLoS Genet
, vol.10
, pp. e1004494
-
-
Lim, E.T.1
Würtz, P.2
Havulinna, A.S.3
Palta, P.4
Tukiainen, T.5
Rehnström, K.6
Esko, T.7
Mägi, R.8
Inouye, M.9
Lappalainen, T.10
-
13
-
-
84961734148
-
Human knockouts in a cohort with a high rate of consanguinity
-
13 Saleheen, D., Natarajan, P., Zhao, W., Rasheed, A., Khetarpal, S., Won, H.-H., Karczewski, K.J., ODonnell-Luria, A.H., Samocha, K.E., Gupta, N., et al. Human knockouts in a cohort with a high rate of consanguinity. bioRxiv, 2015.
-
(2015)
bioRxiv
-
-
Saleheen, D.1
Natarajan, P.2
Zhao, W.3
Rasheed, A.4
Khetarpal, S.5
Won, H.-H.6
Karczewski, K.J.7
ODonnell-Luria, A.H.8
Samocha, K.E.9
Gupta, N.10
-
14
-
-
84960087088
-
Health and population effects of rare gene knockouts in adult humans with related parents
-
This study takes advantage of high levels of inbreeding in a population of Pakistani heritage to study the effects of LoF mutations in the human genome. The authors find that the average number of LoF mutations in this and in the Finnish founder-population is significantly lower than in other human populations.
-
14•• Narasimhan, V.M., Hunt, K.A., Mason, D., Baker, C.L., Karczewski, K.J., Barnes, M.R., Barnett, A.H., Bates, C., Bellary, S., Bockett, N.A., et al. Health and population effects of rare gene knockouts in adult humans with related parents. Science 352 (2016), 474–477 This study takes advantage of high levels of inbreeding in a population of Pakistani heritage to study the effects of LoF mutations in the human genome. The authors find that the average number of LoF mutations in this and in the Finnish founder-population is significantly lower than in other human populations.
-
(2016)
Science
, vol.352
, pp. 474-477
-
-
Narasimhan, V.M.1
Hunt, K.A.2
Mason, D.3
Baker, C.L.4
Karczewski, K.J.5
Barnes, M.R.6
Barnett, A.H.7
Bates, C.8
Bellary, S.9
Bockett, N.A.10
-
15
-
-
84893945338
-
A genetic atlas of human admixture history
-
15 Hellenthal, G., Busby, G.B.J., Band, G., Wilson, J.F., Capelli, C., Falush, D., Myers, S., A genetic atlas of human admixture history. Science 343 (2014), 747–751.
-
(2014)
Science
, vol.343
, pp. 747-751
-
-
Hellenthal, G.1
Busby, G.B.J.2
Band, G.3
Wilson, J.F.4
Capelli, C.5
Falush, D.6
Myers, S.7
-
16
-
-
84906818554
-
Toward a new history and geography of human genes informed by ancient DNA
-
16 Pickrell, J.K., Reich, D., Toward a new history and geography of human genes informed by ancient DNA. Trends Genet 30 (2014), 377–389.
-
(2014)
Trends Genet
, vol.30
, pp. 377-389
-
-
Pickrell, J.K.1
Reich, D.2
-
17
-
-
77952136530
-
A draft sequence of the Neandertal genome
-
17 Green, R.E., Krause, J., Briggs, A.W., Maricic, T., Stenzel, U., Kircher, M., Patterson, N., Li, H., Zhai, W., Fritz, M.H., et al. A draft sequence of the Neandertal genome. Science 328 (2010), 710–722.
-
(2010)
Science
, vol.328
, pp. 710-722
-
-
Green, R.E.1
Krause, J.2
Briggs, A.W.3
Maricic, T.4
Stenzel, U.5
Kircher, M.6
Patterson, N.7
Li, H.8
Zhai, W.9
Fritz, M.H.10
-
18
-
-
84867331947
-
A high-coverage genome sequence from an archaic Denisovan individual
-
18 Meyer, M., Kircher, M., Gansauge, M.T., Li, H., Racimo, F., Mallick, S., Schraiber, J.G., Jay, F., Prufer, K., de Filippo, C., et al. A high-coverage genome sequence from an archaic Denisovan individual. Science 338 (2012), 222–226.
-
(2012)
Science
, vol.338
, pp. 222-226
-
-
Meyer, M.1
Kircher, M.2
Gansauge, M.T.3
Li, H.4
Racimo, F.5
Mallick, S.6
Schraiber, J.G.7
Jay, F.8
Prufer, K.9
de Filippo, C.10
-
19
-
-
33644956987
-
The mutation load in small populations
-
A foundational paper on the effect of drift on mutation load in finite populations, showing that mildly deleterious alleles are expected to contribute substantially more to load than strongly deleterious ones.
-
19•• Kimura, M., Maruyama, T., Crow, J.F., The mutation load in small populations. Genetics 48 (1963), 1303–1312 A foundational paper on the effect of drift on mutation load in finite populations, showing that mildly deleterious alleles are expected to contribute substantially more to load than strongly deleterious ones.
-
(1963)
Genetics
, vol.48
, pp. 1303-1312
-
-
Kimura, M.1
Maruyama, T.2
Crow, J.F.3
-
20
-
-
0004046696
-
The Neutral Theory of Molecular Evolution
-
Cambridge University Press
-
20 Kimura, M., The Neutral Theory of Molecular Evolution. 1984, Cambridge University Press.
-
(1984)
-
-
Kimura, M.1
-
21
-
-
0023798688
-
King's formula for the mutation load with epistasis
-
21 Kondrashov, A.S., Crow, J.F., King's formula for the mutation load with epistasis. Genetics 120 (1988), 853–856.
-
(1988)
Genetics
, vol.120
, pp. 853-856
-
-
Kondrashov, A.S.1
Crow, J.F.2
-
22
-
-
0001654122
-
Development of neutral and nearly neutral theories
-
22 Ohta, T., Gillespie, J.H., Development of neutral and nearly neutral theories. Theor Popul Biol 49 (1996), 128–142.
-
(1996)
Theor Popul Biol
, vol.49
, pp. 128-142
-
-
Ohta, T.1
Gillespie, J.H.2
-
23
-
-
84876823246
-
Mutation load: the fitness of individuals in populations where deleterious alleles are abundant
-
An up to date and broad review about the determinants of mutation load and its implications.
-
23•• Agrawal, A.F., Whitlock, M.C., Mutation load: the fitness of individuals in populations where deleterious alleles are abundant. Annu Rev Ecol Evol Syst 43 (2012), 115–135 An up to date and broad review about the determinants of mutation load and its implications.
-
(2012)
Annu Rev Ecol Evol Syst
, vol.43
, pp. 115-135
-
-
Agrawal, A.F.1
Whitlock, M.C.2
-
24
-
-
84906497659
-
The distribution of deleterious genetic variation in human populations
-
24 Lohmueller, K.E., The distribution of deleterious genetic variation in human populations. Curr Opin Genet Dev 29 (2014), 139–146.
-
(2014)
Curr Opin Genet Dev
, vol.29
, pp. 139-146
-
-
Lohmueller, K.E.1
-
25
-
-
84929509878
-
Estimating the mutation load in human genomes
-
25 Henn, B.M., Botigue, L.R., Bustamante, C.D., Clark, A.G., Gravel, S., Estimating the mutation load in human genomes. Nat Rev Genet 16 (2015), 333–343.
-
(2015)
Nat Rev Genet
, vol.16
, pp. 333-343
-
-
Henn, B.M.1
Botigue, L.R.2
Bustamante, C.D.3
Clark, A.G.4
Gravel, S.5
-
26
-
-
84962622856
-
The limits of natural selection in a nonequilibrium world
-
A recent, phylogenetically broad perspective about the interaction of selection and non-equilibrium demography.
-
26•• Brandvain, Y., Wright, S.I., The limits of natural selection in a nonequilibrium world. Trends Genet 32 (2016), 201–210 A recent, phylogenetically broad perspective about the interaction of selection and non-equilibrium demography.
-
(2016)
Trends Genet
, vol.32
, pp. 201-210
-
-
Brandvain, Y.1
Wright, S.I.2
-
27
-
-
0001400708
-
The effect of variation on fitness
-
In this seminal paper, Haldane calculates the fitness cost of mutation, which we now call load, at mutation-selection balance.
-
27• Haldane, J.B.S., The effect of variation on fitness. Am Nat 71 (1937), 337–349 In this seminal paper, Haldane calculates the fitness cost of mutation, which we now call load, at mutation-selection balance.
-
(1937)
Am Nat
, vol.71
, pp. 337-349
-
-
Haldane, J.B.S.1
-
28
-
-
1542802459
-
Our load of mutations
-
In this seminal paper, Muller coins the term load and argues that deleterious mutations contribute substantially to human mortality and disease.
-
28• Muller, H.J., Our load of mutations. Am J Hum Gene 2 (1950), 111–176 In this seminal paper, Muller coins the term load and argues that deleterious mutations contribute substantially to human mortality and disease.
-
(1950)
Am J Hum Gene
, vol.2
, pp. 111-176
-
-
Muller, H.J.1
-
29
-
-
0002995790
-
Mutation, mean fitness, and genetic load
-
29 Crow, J.F., Mutation, mean fitness, and genetic load. Oxf Surv Evol Biol 9 (1993), 3–42.
-
(1993)
Oxf Surv Evol Biol
, vol.9
, pp. 3-42
-
-
Crow, J.F.1
-
30
-
-
39749139577
-
Proportionally more deleterious genetic variation in European than in African populations
-
This paper gave rise to the current interest in the effects of recent human demography on load, and in particular suggested that Europeans suffer from greater load than Africans.
-
30•• Lohmueller, K.E., Indap, A.R., Schmidt, S., Boyko, A.R., Hernandez, R.D., Hubisz, M.J., Sninsky, J.J., White, T.J., Sunyaev, S.R., Nielsen, R., et al. Proportionally more deleterious genetic variation in European than in African populations. Nature 451 (2008), 994–997 This paper gave rise to the current interest in the effects of recent human demography on load, and in particular suggested that Europeans suffer from greater load than Africans.
-
(2008)
Nature
, vol.451
, pp. 994-997
-
-
Lohmueller, K.E.1
Indap, A.R.2
Schmidt, S.3
Boyko, A.R.4
Hernandez, R.D.5
Hubisz, M.J.6
Sninsky, J.J.7
White, T.J.8
Sunyaev, S.R.9
Nielsen, R.10
-
31
-
-
84895867277
-
The deleterious mutation load is insensitive to recent population history
-
••]) to show that individuals of west African and European ancestry carry very similar burdens of damaging mutations.
-
••]) to show that individuals of west African and European ancestry carry very similar burdens of damaging mutations.
-
(2014)
Nat Genet
, vol.46
, pp. 220-224
-
-
Simons, Y.B.1
Turchin, M.C.2
Pritchard, J.K.3
Sella, G.4
-
32
-
-
84926169268
-
No evidence that selection has been less effective at removing deleterious mutations in Europeans than in Africans
-
••]) to find no evidence for differences in load among diverse human populations, but higher load in Denisovans compared to modern humans.
-
••]) to find no evidence for differences in load among diverse human populations, but higher load in Denisovans compared to modern humans.
-
(2015)
Nat Genet
, vol.47
, pp. 126-131
-
-
Do, R.1
Balick, D.2
Li, H.3
Adzhubei, I.4
Sunyaev, S.5
Reich, D.6
-
33
-
-
84867241644
-
Population genetic inference from personal genome data: impact of ancestry and admixture on human genomic variation
-
33 Kidd, J.M., Gravel, S., Byrnes, J., Moreno-Estrada, A., Musharoff, S., Bryc, K., Degenhardt, J.D., Brisbin, A., Sheth, V., Chen, R., et al. Population genetic inference from personal genome data: impact of ancestry and admixture on human genomic variation. Am J Hum Genet 91 (2012), 660–671.
-
(2012)
Am J Hum Genet
, vol.91
, pp. 660-671
-
-
Kidd, J.M.1
Gravel, S.2
Byrnes, J.3
Moreno-Estrada, A.4
Musharoff, S.5
Bryc, K.6
Degenhardt, J.D.7
Brisbin, A.8
Sheth, V.9
Chen, R.10
-
34
-
-
84880334976
-
Selective constraint, background selection, and mutation accumulation variability within and between human populations
-
34 Hodgkinson, A., Casals, F., Idaghdour, Y., Grenier, J.C., Hernandez, R.D., Awadalla, P., Selective constraint, background selection, and mutation accumulation variability within and between human populations. BMC Genomics, 14, 2013, 495.
-
(2013)
BMC Genomics
, vol.14
, pp. 495
-
-
Hodgkinson, A.1
Casals, F.2
Idaghdour, Y.3
Grenier, J.C.4
Hernandez, R.D.5
Awadalla, P.6
-
35
-
-
84873087047
-
Current relaxation of selection on the human genome: tolerance of deleterious mutations on olfactory receptors
-
35 Pierron, D., Cortes, N.G., Letellier, T., Grossman, L.I., Current relaxation of selection on the human genome: tolerance of deleterious mutations on olfactory receptors. Mol Phylogenet Evol 66 (2013), 558–564.
-
(2013)
Mol Phylogenet Evol
, vol.66
, pp. 558-564
-
-
Pierron, D.1
Cortes, N.G.2
Letellier, T.3
Grossman, L.I.4
-
36
-
-
84921818763
-
Characteristics of neutral and deleterious protein-coding variation among individuals and populations
-
36 Fu, W., Gittelman, R.M., Bamshad, M.J., Akey, J.M., Characteristics of neutral and deleterious protein-coding variation among individuals and populations. Am J Hum Genet 95 (2014), 421–436.
-
(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
-
37
-
-
84991454682
-
Purging of deleterious variants in Italian founder populations with extended autozygosity
-
37 Cocca, M., Pybus, M., Palamara, P.F., Garrison, E., Traglia, M., Sala, C.F., Ulivi, S., Memari, Y., Kolb-Kokocinski, A., Durbin, R., et al. Purging of deleterious variants in Italian founder populations with extended autozygosity. bioRxiv, 2015.
-
(2015)
bioRxiv
-
-
Cocca, M.1
Pybus, M.2
Palamara, P.F.3
Garrison, E.4
Traglia, M.5
Sala, C.F.6
Ulivi, S.7
Memari, Y.8
Kolb-Kokocinski, A.9
Durbin, R.10
-
38
-
-
84943755428
-
Homozygous loss-of-function variants in European cosmopolitan and isolate populations
-
38 Kaiser, V.B., Svinti, V., Prendergast, J.G., Chau, Y.Y., Campbell, A., Patarcic, I., Barroso, I., Joshi, P.K., Hastie, N.D., Miljkovic, A., et al. Homozygous loss-of-function variants in European cosmopolitan and isolate populations. Hum Mol Genet 24 (2015), 5464–5474.
-
(2015)
Hum Mol Genet
, vol.24
, pp. 5464-5474
-
-
Kaiser, V.B.1
Svinti, V.2
Prendergast, J.G.3
Chau, Y.Y.4
Campbell, A.5
Patarcic, I.6
Barroso, I.7
Joshi, P.K.8
Hastie, N.D.9
Miljkovic, A.10
-
39
-
-
84937132252
-
Origin and dynamics of admixture in Brazilians and its effect on the pattern of deleterious mutations
-
39 Kehdy, F.S., Gouveia, M.H., Machado, M., Magalhaes, W.C., Horimoto, A.R., Horta, B.L., Moreira, R.G., Leal, T.P., Scliar, M.O., Soares-Souza, G.B., et al. Origin and dynamics of admixture in Brazilians and its effect on the pattern of deleterious mutations. Proc Natl Acad Sci U S A 112 (2015), 8696–8701.
-
(2015)
Proc Natl Acad Sci U S A
, vol.112
, pp. 8696-8701
-
-
Kehdy, F.S.1
Gouveia, M.H.2
Machado, M.3
Magalhaes, W.C.4
Horimoto, A.R.5
Horta, B.L.6
Moreira, R.G.7
Leal, T.P.8
Scliar, M.O.9
Soares-Souza, G.B.10
-
40
-
-
84955508579
-
Distance from sub-Saharan Africa predicts mutational load in diverse human genomes
-
40 Henn, B.M., Botigué, L.R., Peischl, S., Dupanloup, I., Lipatov, M., Maples, B.K., Martin, A.R., Musharoff, S., Cann, H., Snyder, M.P., et al. Distance from sub-Saharan Africa predicts mutational load in diverse human genomes. Proc Natl Acad Sci U S A 113 (2016), E440–E449.
-
(2016)
Proc Natl Acad Sci U S A
, vol.113
, pp. E440-E449
-
-
Henn, B.M.1
Botigué, L.R.2
Peischl, S.3
Dupanloup, I.4
Lipatov, M.5
Maples, B.K.6
Martin, A.R.7
Musharoff, S.8
Cann, H.9
Snyder, M.P.10
-
41
-
-
84962734134
-
Whole-exome sequencing in an isolated population from the Dalmatian island of Vis
-
41 Jeroncic, A., Memari, Y., Ritchie, G.R., Hendricks, A.E., Kolb-Kokocinski, A., Matchan, A., Vitart, V., Hayward, C., Kolcic, I., Glodzik, D., et al. Whole-exome sequencing in an isolated population from the Dalmatian island of Vis. Eur J Hum Genet, 2016.
-
(2016)
Eur J Hum Genet
-
-
Jeroncic, A.1
Memari, Y.2
Ritchie, G.R.3
Hendricks, A.E.4
Kolb-Kokocinski, A.5
Matchan, A.6
Vitart, V.7
Hayward, C.8
Kolcic, I.9
Glodzik, D.10
-
42
-
-
84952714752
-
Europeans have a higher proportion of highfrequency deleterious variants than Africans
-
42 Subramanian, S., Europeans have a higher proportion of highfrequency deleterious variants than Africans. Hum Genet 135 (2016), 1–7.
-
(2016)
Hum Genet
, vol.135
, pp. 1-7
-
-
Subramanian, S.1
-
43
-
-
80051968181
-
Needles in stacks of needles: finding disease-causal variants in a wealth of genomic data
-
43 Cooper, G.M., Shendure, J., Needles in stacks of needles: finding disease-causal variants in a wealth of genomic data. Nat Rev Genet 12 (2011), 628–640.
-
(2011)
Nat Rev Genet
, vol.12
, pp. 628-640
-
-
Cooper, G.M.1
Shendure, J.2
-
44
-
-
84942436432
-
Global diversity, population stratification, and selection of human copy-number variation
-
44 Sudmant, P.H., Mallick, S., Nelson, B.J., Hormozdiari, F., Krumm, N., Huddleston, J., Coe, B.P., Baker, C., Nordenfelt, S., Bamshad, M., et al. Global diversity, population stratification, and selection of human copy-number variation. Science, 349, 2015, aab3761.
-
(2015)
Science
, vol.349
, pp. aab3761
-
-
Sudmant, P.H.1
Mallick, S.2
Nelson, B.J.3
Hormozdiari, F.4
Krumm, N.5
Huddleston, J.6
Coe, B.P.7
Baker, C.8
Nordenfelt, S.9
Bamshad, M.10
-
45
-
-
84943182461
-
An integrated map of structural variation in 2,504 human genomes
-
45 Sudmant, P.H., Rausch, T., Gardner, E.J., Handsaker, R.E., Abyzov, A., Huddleston, J., Zhang, Y., Ye, K., Jun, G., Hsi-Yang Fritz, M., et al. An integrated map of structural variation in 2,504 human genomes. Nature 526 (2015), 75–81.
-
(2015)
Nature
, vol.526
, pp. 75-81
-
-
Sudmant, P.H.1
Rausch, T.2
Gardner, E.J.3
Handsaker, R.E.4
Abyzov, A.5
Huddleston, J.6
Zhang, Y.7
Ye, K.8
Jun, G.9
Hsi-Yang Fritz, M.10
-
46
-
-
0026428610
-
Adaptive protein evolution at the Adh locus in Drosophila
-
46 McDonald, J.H., Kreitman, M., Adaptive protein evolution at the Adh locus in Drosophila. Nature 351 (1991), 652–654.
-
(1991)
Nature
, vol.351
, pp. 652-654
-
-
McDonald, J.H.1
Kreitman, M.2
-
47
-
-
37649029925
-
Nonequilibrium model for estimating parameters of deleterious mutations
-
47 Gordo, I., Dionisio, F., Nonequilibrium model for estimating parameters of deleterious mutations. Phys Rev E Stat Nonlin Soft Matter Phys, 71, 2005, 031907.
-
(2005)
Phys Rev E Stat Nonlin Soft Matter Phys
, vol.71
, pp. 031907
-
-
Gordo, I.1
Dionisio, F.2
-
48
-
-
84896691480
-
Loss and recovery of genetic diversity in adapting populations of HIV
-
48 Pennings, P.S., Kryazhimskiy, S., Wakeley, J., Loss and recovery of genetic diversity in adapting populations of HIV. PLoS Genet, 10, 2014, e1004000.
-
(2014)
PLoS Genet
, vol.10
, pp. e1004000
-
-
Pennings, P.S.1
Kryazhimskiy, S.2
Wakeley, J.3
-
49
-
-
84925264691
-
Evidence for recent, population-specific evolution of the human mutation rate
-
49 Harris, K., Evidence for recent, population-specific evolution of the human mutation rate. Proc Natl Acad Sci U S A 112 (2015), 3439–3444.
-
(2015)
Proc Natl Acad Sci U S A
, vol.112
, pp. 3439-3444
-
-
Harris, K.1
-
50
-
-
73449149044
-
Inferring the joint demographic history of multiple populations from multidimensional SNP frequency data
-
50 Gutenkunst, R.N., Hernandez, R.D., Williamson, S.H., Bustamante, C.D., Inferring the joint demographic history of multiple populations from multidimensional SNP frequency data. PLoS Genet, 5, 2009, e1000695.
-
(2009)
PLoS Genet
, vol.5
, pp. e1000695
-
-
Gutenkunst, R.N.1
Hernandez, R.D.2
Williamson, S.H.3
Bustamante, C.D.4
-
51
-
-
79960914105
-
Inference of human population history from individual whole-genome sequences
-
51 Li, H., Durbin, R., Inference of human population history from individual whole-genome sequences. Nature 475 (2011), 493–496.
-
(2011)
Nature
, vol.475
, pp. 493-496
-
-
Li, H.1
Durbin, R.2
-
52
-
-
84905572361
-
Inferring human population size and separation history from multiple genome sequences
-
52 Schiffels, S., Durbin, R., Inferring human population size and separation history from multiple genome sequences. Nat Genet 46 (2014), 919–925.
-
(2014)
Nat Genet
, vol.46
, pp. 919-925
-
-
Schiffels, S.1
Durbin, R.2
-
53
-
-
84979937476
-
The genetic cost of Neanderthal introgression
-
••]) argues that the distribution of Neanderthal ancestry along the genomes of modern humans is best explained by selection against deleterious mutations from Neanderthals, strongly suggesting that Neanderthals suffered from a higher load than do modern humans.
-
••]) argues that the distribution of Neanderthal ancestry along the genomes of modern humans is best explained by selection against deleterious mutations from Neanderthals, strongly suggesting that Neanderthals suffered from a higher load than do modern humans.
-
(2016)
Genetics
-
-
Harris, K.1
Nielsen, R.2
-
54
-
-
0029130141
-
Contamination of the genome by very slightly deleterious mutations: why have we not died 100 times over
-
54 Kondrashov, A.S., Contamination of the genome by very slightly deleterious mutations: why have we not died 100 times over. J Theor Biol 175 (1995), 583–594.
-
(1995)
J Theor Biol
, vol.175
, pp. 583-594
-
-
Kondrashov, A.S.1
-
55
-
-
0027443866
-
An examination of the generation-time effect on molecular evolution
-
55 Ohta, T., An examination of the generation-time effect on molecular evolution. Proc Natl Acad Sci U S A 90 (1993), 10676–10680.
-
(1993)
Proc Natl Acad Sci U S A
, vol.90
, pp. 10676-10680
-
-
Ohta, T.1
-
56
-
-
15744388330
-
Evidence for widespread degradation of gene control regions in hominid genomes
-
56 Keightley, P.D., Lercher, M.J., Eyre-Walker, A., Evidence for widespread degradation of gene control regions in hominid genomes. PLoS Biol, 3, 2005, e42.
-
(2005)
PLoS Biol
, vol.3
, pp. e42
-
-
Keightley, P.D.1
Lercher, M.J.2
Eyre-Walker, A.3
-
57
-
-
84887109646
-
Population growth inflates the per-individual number of deleterious mutations and reduces their mean effect
-
57 Gazave, E., Chang, D., Clark, A.G., Keinan, A., Population growth inflates the per-individual number of deleterious mutations and reduces their mean effect. Genetics 195 (2013), 969–978.
-
(2013)
Genetics
, vol.195
, pp. 969-978
-
-
Gazave, E.1
Chang, D.2
Clark, A.G.3
Keinan, A.4
-
58
-
-
0031670732
-
Bottleneck effect on genetic variance. A theoretical investigation of the role of dominance
-
58 Wang, J., Caballero, A., Keightley, P.D., Hill, W.G., Bottleneck effect on genetic variance. A theoretical investigation of the role of dominance. Genetics 150 (1998), 435–447.
-
(1998)
Genetics
, vol.150
, pp. 435-447
-
-
Wang, J.1
Caballero, A.2
Keightley, P.D.3
Hill, W.G.4
-
59
-
-
0034127251
-
The effects of a bottleneck on inbreeding depression and the genetic load
-
59 Kirkpatrick, M., Jarne, P., The effects of a bottleneck on inbreeding depression and the genetic load. Am Nat 155 (2000), 154–167.
-
(2000)
Am Nat
, vol.155
, pp. 154-167
-
-
Kirkpatrick, M.1
Jarne, P.2
-
60
-
-
84940733223
-
Dominance of deleterious alleles controls the response to a population bottleneck
-
60 Balick, D.J., Do, R., Cassa, C.A., Reich, D., Sunyaev, S.R., Dominance of deleterious alleles controls the response to a population bottleneck. PLoS Genet, 11, 2015, e1005436.
-
(2015)
PLoS Genet
, vol.11
, pp. e1005436
-
-
Balick, D.J.1
Do, R.2
Cassa, C.A.3
Reich, D.4
Sunyaev, S.R.5
-
61
-
-
84979887636
-
When is selection effective
-
61 Gravel, S., When is selection effective. Genetics 203 (2016), 451–462.
-
(2016)
Genetics
, vol.203
, pp. 451-462
-
-
Gravel, S.1
-
62
-
-
0001496671
-
Fisher's theory of dominance
-
Wright argues against an evolutionary theory of dominance, and proposes a physiological explanation for why mutations of large effect tend to be recessive.
-
62•• Wright, S., Fisher's theory of dominance. Am Nat 63 (1929), 274–279 Wright argues against an evolutionary theory of dominance, and proposes a physiological explanation for why mutations of large effect tend to be recessive.
-
(1929)
Am Nat
, vol.63
, pp. 274-279
-
-
Wright, S.1
-
63
-
-
0000149737
-
A comparison of the effect of lethal and detrimental chromosomes from drosophila populations
-
63 Greenberg, R., Crow, J.F., A comparison of the effect of lethal and detrimental chromosomes from drosophila populations. Genetics 45 (1960), 1153–1168.
-
(1960)
Genetics
, vol.45
, pp. 1153-1168
-
-
Greenberg, R.1
Crow, J.F.2
-
64
-
-
0017634248
-
Mutations affecting fitness in Drosophila populations
-
A seminal review of empirical work about the fitness effects of mutations in Drosophila, arguing for an inverse relationship between dominance and selection effects.
-
64•• Simmons, M.J., Crow, J.F., Mutations affecting fitness in Drosophila populations. Annu Rev Genet 11 (1977), 49–78 A seminal review of empirical work about the fitness effects of mutations in Drosophila, arguing for an inverse relationship between dominance and selection effects.
-
(1977)
Annu Rev Genet
, vol.11
, pp. 49-78
-
-
Simmons, M.J.1
Crow, J.F.2
-
65
-
-
0018374495
-
Evidence against Fisher's theory of dominance
-
65 Charlesworth, B., Evidence against Fisher's theory of dominance. Nature 278 (1979), 848–849.
-
(1979)
Nature
, vol.278
, pp. 848-849
-
-
Charlesworth, B.1
-
66
-
-
26444452767
-
Widespread correlations between dominance and homozygous effects of mutations: implications for theories of dominance
-
66 Phadnis, N., Fry, J.D., Widespread correlations between dominance and homozygous effects of mutations: implications for theories of dominance. Genetics 171 (2005), 385–392.
-
(2005)
Genetics
, vol.171
, pp. 385-392
-
-
Phadnis, N.1
Fry, J.D.2
-
67
-
-
79951526578
-
Inferences about the distribution of dominance drawn from yeast gene knockout data
-
A recent study of the distribution of dominance effects and their relationship to selection effects for gene knockouts in yeast.
-
67• Agrawal, A.F., Whitlock, M.C., Inferences about the distribution of dominance drawn from yeast gene knockout data. Genetics 187 (2011), 553–566 A recent study of the distribution of dominance effects and their relationship to selection effects for gene knockouts in yeast.
-
(2011)
Genetics
, vol.187
, pp. 553-566
-
-
Agrawal, A.F.1
Whitlock, M.C.2
-
68
-
-
84991469650
-
®
-
McKusick-Nathans Institute of Genetic Medicine Johns Hopkins University (Baltimore, MD)
-
®. 2008, McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University (Baltimore, MD).
-
(2008)
-
-
-
69
-
-
3242727187
-
Human Evolutionary Genetics: Origins, Peoples & Disease
-
Garland Science
-
69 Jobling, M., Hurles, M., Tyler-Smith, C., Human Evolutionary Genetics: Origins, Peoples & Disease. 2013, Garland Science.
-
(2013)
-
-
Jobling, M.1
Hurles, M.2
Tyler-Smith, C.3
-
70
-
-
0032869123
-
Molecular genetics the Finnish disease heritage
-
70 Peltonen, L., Jalanko, A., Varilo, T., Molecular genetics the Finnish disease heritage. Hum Mol Genet 8 (1999), 1913–1923.
-
(1999)
Hum Mol Genet
, vol.8
, pp. 1913-1923
-
-
Peltonen, L.1
Jalanko, A.2
Varilo, T.3
-
71
-
-
0035514049
-
A genetic profile of contemporary Jewish populations
-
71 Ostrer, H., A genetic profile of contemporary Jewish populations. Nat Rev Genet 2 (2001), 891–898.
-
(2001)
Nat Rev Genet
, vol.2
, pp. 891-898
-
-
Ostrer, H.1
-
72
-
-
0037605876
-
Finnish disease heritage I
-
72 Norio, R., Finnish disease heritage I. Hum Genet 112 (2003), 441–456.
-
(2003)
Hum Genet
, vol.112
, pp. 441-456
-
-
Norio, R.1
-
73
-
-
0038620204
-
The Finnish disease heritage III: the individual diseases
-
73 Norio, R., The Finnish disease heritage III: the individual diseases. Hum Genet 112 (2003), 470–526.
-
(2003)
Hum Genet
, vol.112
, pp. 470-526
-
-
Norio, R.1
-
74
-
-
0037385394
-
Geographic distribution of disease mutations in the Ashkenazi Jewish population supports genetic drift over selection
-
74 Risch, N., Tang, H., Katzenstein, H., Ekstein, J., Geographic distribution of disease mutations in the Ashkenazi Jewish population supports genetic drift over selection. Am J Hum Genet 72 (2003), 812–822.
-
(2003)
Am J Hum Genet
, vol.72
, pp. 812-822
-
-
Risch, N.1
Tang, H.2
Katzenstein, H.3
Ekstein, J.4
-
75
-
-
3242694118
-
A population-genetic test of founder effects and implications for Ashkenazi Jewish diseases
-
75 Slatkin, M., A population-genetic test of founder effects and implications for Ashkenazi Jewish diseases. Am J Hum Genet 75 (2004), 282–293.
-
(2004)
Am J Hum Genet
, vol.75
, pp. 282-293
-
-
Slatkin, M.1
-
76
-
-
0027831539
-
A five-year prospective study of the health of children in different ethnic groups, with particular reference to the effect of inbreeding
-
76 Bundey, S., Alam, H., A five-year prospective study of the health of children in different ethnic groups, with particular reference to the effect of inbreeding. Eur J Hum Genet 1 (1993), 206–219.
-
(1993)
Eur J Hum Genet
, vol.1
, pp. 206-219
-
-
Bundey, S.1
Alam, H.2
-
77
-
-
70350367182
-
Consanguinity and reproductive health among Arabs
-
77 Tadmouri, G.O., Nair, P., Obeid, T., Al Ali, M.T., Al Khaja, N., Hamamy, H.A., Consanguinity and reproductive health among Arabs. Reprod Health 6 (2009), 1–9.
-
(2009)
Reprod Health
, vol.6
, pp. 1-9
-
-
Tadmouri, G.O.1
Nair, P.2
Obeid, T.3
Al Ali, M.T.4
Al Khaja, N.5
Hamamy, H.A.6
-
78
-
-
79959296235
-
Endogamy and consanguineous marriage in Arab populations
-
S.A. Teebi Springer Berlin Heidelberg
-
78 Bittles, A.H., Hamamy, H.A., Endogamy and consanguineous marriage in Arab populations. Teebi, S.A., (eds.) Genetic Disorders Among Arab Populations, 2010, Springer Berlin Heidelberg, 85–108.
-
(2010)
Genetic Disorders Among Arab Populations
, pp. 85-108
-
-
Bittles, A.H.1
Hamamy, H.A.2
-
79
-
-
0032722931
-
Dynamics of inbreeding depression due to deleterious mutations in small populations: mutation parameters and inbreeding rate
-
79 Wang, J., Hill, W.G., Charlesworth, D., Charlesworth, B., Dynamics of inbreeding depression due to deleterious mutations in small populations: mutation parameters and inbreeding rate. Genet Res 74 (1999), 165–178.
-
(1999)
Genet Res
, vol.74
, pp. 165-178
-
-
Wang, J.1
Hill, W.G.2
Charlesworth, D.3
Charlesworth, B.4
-
80
-
-
59449102869
-
A simple method to account for natural selection when predicting inbreeding depression
-
80 Garcia-Dorado, A., A simple method to account for natural selection when predicting inbreeding depression. Genetics 180 (2008), 1559–1566.
-
(2008)
Genetics
, vol.180
, pp. 1559-1566
-
-
Garcia-Dorado, A.1
-
81
-
-
84927589000
-
Mountain gorilla genomes reveal the impact of long-term population decline and inbreeding
-
This study finds evidence for changes in the load of non-synonymous and loss of function mutations in eastern compared to western sub-species of gorilla, as expected from their inferred demographic histories.
-
81•• Xue, Y., Prado-Martinez, J., Sudmant, P.H., Narasimhan, V., Ayub, Q., Szpak, M., Frandsen, P., Chen, Y., Yngvadottir, B., Cooper, D.N., et al. Mountain gorilla genomes reveal the impact of long-term population decline and inbreeding. Science 348 (2015), 242–245 This study finds evidence for changes in the load of non-synonymous and loss of function mutations in eastern compared to western sub-species of gorilla, as expected from their inferred demographic histories.
-
(2015)
Science
, vol.348
, pp. 242-245
-
-
Xue, Y.1
Prado-Martinez, J.2
Sudmant, P.H.3
Narasimhan, V.4
Ayub, Q.5
Szpak, M.6
Frandsen, P.7
Chen, Y.8
Yngvadottir, B.9
Cooper, D.N.10
-
82
-
-
84892365780
-
The complete genome sequence of a Neanderthal from the Altai Mountains
-
82 Prufer, K., Racimo, F., Patterson, N., Jay, F., Sankararaman, S., Sawyer, S., Heinze, A., Renaud, G., Sudmant, P.H., de Filippo, C., et al. The complete genome sequence of a Neanderthal from the Altai Mountains. Nature 505 (2014), 43–49.
-
(2014)
Nature
, vol.505
, pp. 43-49
-
-
Prufer, K.1
Racimo, F.2
Patterson, N.3
Jay, F.4
Sankararaman, S.5
Sawyer, S.6
Heinze, A.7
Renaud, G.8
Sudmant, P.H.9
de Filippo, C.10
-
83
-
-
84866690688
-
Revisiting an old riddle: what determines genetic diversity levels within species?
-
83 Leffler, E.M., Bullaughey, K., Matute, D.R., Meyer, W.K., SÈgurel, L., Venkat, A., Andolfatto, P., Przeworski, M., Revisiting an old riddle: what determines genetic diversity levels within species?. PLoS Biol, 10, 2012, e1001388.
-
(2012)
PLoS Biol
, vol.10
, pp. e1001388
-
-
Leffler, E.M.1
Bullaughey, K.2
Matute, D.R.3
Meyer, W.K.4
SÈgurel, L.5
Venkat, A.6
Andolfatto, P.7
Przeworski, M.8
-
84
-
-
84958530353
-
The strength of selection against Neanderthal introgression
-
••]) argues that the distribution of Neanderthal ancestry along the genomes of modern humans is best explained by selection against deleterious mutations from Neanderthals, strongly suggesting that Neanderthals suffered from a higher load than do modern humans.
-
••]) argues that the distribution of Neanderthal ancestry along the genomes of modern humans is best explained by selection against deleterious mutations from Neanderthals, strongly suggesting that Neanderthals suffered from a higher load than do modern humans.
-
(2015)
bioRxiv
-
-
Juric, I.1
Aeschbacher, S.2
Coop, G.3
-
85
-
-
84897025665
-
The genomic landscape of Neanderthal ancestry in present-day humans
-
85 Sankararaman, S., Mallick, S., Dannemann, M., Prufer, K., Kelso, J., Paabo, S., Patterson, N., Reich, D., The genomic landscape of Neanderthal ancestry in present-day humans. Nature 507 (2014), 354–357.
-
(2014)
Nature
, vol.507
, pp. 354-357
-
-
Sankararaman, S.1
Mallick, S.2
Dannemann, M.3
Prufer, K.4
Kelso, J.5
Paabo, S.6
Patterson, N.7
Reich, D.8
-
86
-
-
84961392375
-
Excavating Neandertal and Denisovan DNA from the genomes of Melanesian individuals
-
86 Vernot, B., Tucci, S., Kelso, J., Schraiber, J.G., Wolf, A.B., Gittelman, R.M., Dannemann, M., Grote, S., McCoy, R.C., Norton, H., et al. Excavating Neandertal and Denisovan DNA from the genomes of Melanesian individuals. Science 352 (2016), 235–239.
-
(2016)
Science
, vol.352
, pp. 235-239
-
-
Vernot, B.1
Tucci, S.2
Kelso, J.3
Schraiber, J.G.4
Wolf, A.B.5
Gittelman, R.M.6
Dannemann, M.7
Grote, S.8
McCoy, R.C.9
Norton, H.10
-
87
-
-
84929518810
-
Evidence for archaic adaptive introgression in humans
-
87 Racimo, F., Sankararaman, S., Nielsen, R., Huerta-Sanchez, E., Evidence for archaic adaptive introgression in humans. Nat Rev Genet 16 (2015), 359–371.
-
(2015)
Nat Rev Genet
, vol.16
, pp. 359-371
-
-
Racimo, F.1
Sankararaman, S.2
Nielsen, R.3
Huerta-Sanchez, E.4
-
88
-
-
84897583960
-
Resurrecting surviving Neandertal lineages from modern human genomes
-
88 Vernot, B., Akey, J.M., Resurrecting surviving Neandertal lineages from modern human genomes. Science 343 (2014), 1017–1021.
-
(2014)
Science
, vol.343
, pp. 1017-1021
-
-
Vernot, B.1
Akey, J.M.2
-
89
-
-
84969820697
-
The genetic history of Ice Age Europe
-
89 Fu, Q., Posth, C., Hajdinjak, M., Petr, M., Mallick, S., Fernandes, D., Furtwängler, A., Haak, W., Meyer, M., Mittnik, A., et al. The genetic history of Ice Age Europe. Nature 534 (2016), 200–205.
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(2016)
Nature
, vol.534
, pp. 200-205
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Fu, Q.1
Posth, C.2
Hajdinjak, M.3
Petr, M.4
Mallick, S.5
Fernandes, D.6
Furtwängler, A.7
Haak, W.8
Meyer, M.9
Mittnik, A.10
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