-
1
-
-
84975795680
-
An integrated map of genetic variation from 1,092 human genomes
-
Abecasis GR, Auton A, Brooks LD et al: An integrated map of genetic variation from 1,092 human genomes. Nature 2012; 491: 56-65.
-
(2012)
Nature
, vol.491
, pp. 56-65
-
-
Abecasis, G.R.1
Auton, A.2
Brooks, L.D.3
-
2
-
-
33747869290
-
Health effects of human population isolation and admixture
-
Rudan I: Health effects of human population isolation and admixture. Croat Med J 2006; 47: 526-531.
-
(2006)
Croat Med J
, vol.47
, pp. 526-531
-
-
Rudan, I.1
-
3
-
-
33646167611
-
3000 years of solitude: Extreme differentiation in the island isolates of Dalmatia, Croatia
-
Vitart V, Biloglav Z, Hayward C et al: 3000 years of solitude: extreme differentiation in the island isolates of Dalmatia, Croatia. Eur J Hum Genet 2006; 14: 478-487.
-
(2006)
Eur J Hum Genet
, vol.14
, pp. 478-487
-
-
Vitart, V.1
Biloglav, Z.2
Hayward, C.3
-
4
-
-
10744222495
-
Y chromosomal heritage of Croatian population and its island isolates
-
Barac L, Pericic M, Klaric IM et al: Y chromosomal heritage of Croatian population and its island isolates. Eur J Hum Genet 2003; 11: 535-542.
-
(2003)
Eur J Hum Genet
, vol.11
, pp. 535-542
-
-
Barac, L.1
Pericic, M.2
Klaric, I.M.3
-
5
-
-
67549100084
-
Historic, demographic, and genetic evidence for increased population frequencies of CCR5Delta32 mutation in Croatian Island isolates after lethal 15th century epidemics
-
Biloglav Z, Zgaga L, Smoljanovic M et al: Historic, demographic, and genetic evidence for increased population frequencies of CCR5Delta32 mutation in Croatian Island isolates after lethal 15th century epidemics. Croat Med J 2009; 50: 34-42.
-
(2009)
Croat Med J
, vol.50
, pp. 34-42
-
-
Biloglav, Z.1
Zgaga, L.2
Smoljanovic, M.3
-
6
-
-
0033251151
-
Genetic epidemiological studies of eastern Adriatic island isolates Croatia objective and strategies
-
Rudan I, Campbell H, Rudan P. Genetic epidemiological studies of eastern Adriatic Island isolates, Croatia: objective and strategies. Coll Antropol 1999; 23: 531-546.
-
(1999)
Coll Antropol
, vol.23
, pp. 531-546
-
-
Rudan, I.1
Campbell, H.2
Rudan, P.3
-
7
-
-
84884587140
-
Inference of identity by descent in population isolates and optimal sequencing studies
-
Glodzik D, Navarro P, Vitart V et al: Inference of identity by descent in population isolates and optimal sequencing studies. Eur J Hum Genet 2013; 21: 1140-1145.
-
(2013)
Eur J Hum Genet
, vol.21
, pp. 1140-1145
-
-
Glodzik, D.1
Navarro, P.2
Vitart, V.3
-
8
-
-
84890690821
-
A rare functional cardioprotective APOC3 variant has risen in frequency in distinct population isolates
-
Tachmazidou I, Dedoussis G, Southam L et al: A rare functional cardioprotective APOC3 variant has risen in frequency in distinct population isolates. Nat Commun 2013; 4: 2872.
-
(2013)
Nat Commun
, vol.4
, pp. 2872
-
-
Tachmazidou, I.1
Dedoussis, G.2
Southam, L.3
-
9
-
-
84884769487
-
In search of low-frequency and rare variants affecting complex traits
-
Panoutsopoulou K, Tachmazidou I, Zeggini E. In search of low-frequency and rare variants affecting complex traits. Hum Mol Genet 2013; 22: R16-R21.
-
(2013)
Hum Mol Genet
, vol.22
, pp. R16-R21
-
-
Panoutsopoulou, K.1
Tachmazidou, I.2
Zeggini, E.3
-
10
-
-
67549135178
-
10001 Dalmatians:' Croatia launches its national biobank
-
Rudan I, Marusic A, Jankovic S et al: '10001 Dalmatians:' Croatia launches its national biobank. Croat Med J 2009; 50: 4-6.
-
(2009)
Croat Med J
, vol.50
, pp. 4-6
-
-
Rudan, I.1
Marusic, A.2
Jankovic, S.3
-
11
-
-
84888395985
-
Future of biobanks-bigger, longer, and more dimensional
-
Polasek O. Future of biobanks-bigger, longer, and more dimensional. Croat Med J 2013; 54: 496-500.
-
(2013)
Croat Med J
, vol.54
, pp. 496-500
-
-
Polasek, O.1
-
12
-
-
84904912246
-
H3M2: Detection of runs of homozygosity from whole-exome sequencing data
-
Magi A, Tattini L, Palombo F et al: H3M2: detection of runs of homozygosity from whole-exome sequencing data. Bioinformatics 2014; 30: 2852-2859.
-
(2014)
Bioinformatics
, vol.30
, pp. 2852-2859
-
-
Magi, A.1
Tattini, L.2
Palombo, F.3
-
15
-
-
84863116742
-
A systematic survey of loss-offunction variants in human protein-coding genes
-
MacArthur DG, Balasubramanian S, Frankish A et al: A systematic survey of loss-offunction variants in human protein-coding genes. Science 2012; 335: 823-828.
-
(2012)
Science
, vol.335
, pp. 823-828
-
-
MacArthur, D.G.1
Balasubramanian, S.2
Frankish, A.3
-
16
-
-
84884681237
-
Whole-exome sequencing reveals a rapid change in the frequency of rare functional variants in a founding population of humans
-
Casals F, Hodgkinson A, Hussin J et al: Whole-exome sequencing reveals a rapid change in the frequency of rare functional variants in a founding population of humans. PLoS Genet 2013; 9: e1003815.
-
(2013)
PLoS Genet
, vol.9
, pp. e1003815
-
-
Casals, F.1
Hodgkinson, A.2
Hussin, J.3
-
17
-
-
78049323331
-
Resequencing of 200 human exomes identifies an excess of low-frequency non-synonymous coding variants
-
Li Y, Vinckenbosch N, Tian G et al: Resequencing of 200 human exomes identifies an excess of low-frequency non-synonymous coding variants. Nat Genet 2010; 42: 969-972.
-
(2010)
Nat Genet
, vol.42
, pp. 969-972
-
-
Li, Y.1
Vinckenbosch, N.2
Tian, G.3
-
18
-
-
84863556835
-
Evolution and functional impact of rare coding variation from deep sequencing of human exomes
-
Tennessen JA, Bigham AW, O'Connor TD et al: Evolution and functional impact of rare coding variation from deep sequencing of human exomes. Science 2012; 337: 64-69.
-
(2012)
Science
, vol.337
, pp. 64-69
-
-
Tennessen, J.A.1
Bigham, A.W.2
O'Connor, T.D.3
-
19
-
-
84905460411
-
Distribution and medical impact of loss-of-function variants in the Finnish founder population
-
Lim ET, Wurtz P, Havulinna AS et al: Distribution and medical impact of loss-of-function variants in the Finnish founder population. PLoS Genet 2014; 10: e1004494.
-
(2014)
PLoS Genet
, vol.10
, pp. e1004494
-
-
Lim, E.T.1
Wurtz, P.2
Havulinna, A.S.3
-
20
-
-
84923354302
-
Genetic characterization of Greek population isolates reveals strong genetic drift at missense and trait-associated variants
-
Panoutsopoulou K, Hatzikotoulas K, Xifara DK et al: Genetic characterization of Greek population isolates reveals strong genetic drift at missense and trait-associated variants. Nat Commun 2014; 5: 5345.
-
(2014)
Nat Commun
, vol.5
, pp. 5345
-
-
Panoutsopoulou, K.1
Hatzikotoulas, K.2
Xifara, D.K.3
-
21
-
-
39749139577
-
Proportionally more deleterious genetic variation in European than in African populations
-
Lohmueller KE, Indap AR, Schmidt S et al: Proportionally more deleterious genetic variation in European than in African populations. Nature 2008; 451: 994-997.
-
(2008)
Nature
, vol.451
, pp. 994-997
-
-
Lohmueller, K.E.1
Indap, A.R.2
Schmidt, S.3
-
22
-
-
78650037203
-
Deep resequencing reveals excess rare recent variants consistent with explosive population growth
-
Coventry A, Bull-Otterson LM, Liu X et al: Deep resequencing reveals excess rare recent variants consistent with explosive population growth. Nat Commun 2010; 1: 131.
-
(2010)
Nat Commun
, vol.1
, pp. 131
-
-
Coventry, A.1
Bull-Otterson, L.M.2
Liu, X.3
-
23
-
-
84860817223
-
Recent explosive human population growth has resulted in an excess of rare genetic variants
-
Keinan A, Clark AG. Recent explosive human population growth has resulted in an excess of rare genetic variants. Science 2012;336:740-743.
-
(2012)
Science
, vol.336
, pp. 740-743
-
-
Keinan, A.1
Clark, A.G.2
-
24
-
-
84887109646
-
Population growth inflates the per-individual number of deleterious mutations and reduces their mean effect
-
Gazave E, Chang D, Clark AG, Keinan A. Population growth inflates the per-individual number of deleterious mutations and reduces their mean effect. Genetics 2013; 195: 969-978.
-
(2013)
Genetics
, vol.195
, pp. 969-978
-
-
Gazave, E.1
Chang, D.2
Clark, A.G.3
Keinan, A.4
-
25
-
-
84975742565
-
A map of human genome variation from population-scale sequencing
-
1000 Genomes Project Consortium
-
1000 Genomes Project Consortium. A map of human genome variation from population-scale sequencing. Nature 2010; 467: 1061-1073.
-
(2010)
Nature
, vol.467
, pp. 1061-1073
-
-
-
26
-
-
84921802384
-
Human knockout research: New horizons and opportunities
-
Alkuraya FS. Human knockout research: new horizons and opportunities. Trends Genet 2015; 31: 108-115.
-
(2015)
Trends Genet
, vol.31
, pp. 108-115
-
-
Alkuraya, F.S.1
-
27
-
-
84880787194
-
Bacterial adaptation through loss of function
-
Hottes AK, Freddolino PL, Khare A, Donnell ZN, Liu JC, Tavazoie S. Bacterial adaptation through loss of function. PLoS Genet 2013; 9: e1003617.
-
(2013)
PLoS Genet
, vol.9
, pp. e1003617
-
-
Hottes, A.K.1
Freddolino, P.L.2
Khare, A.3
Donnell, Z.N.4
Liu, J.C.5
Tavazoie, S.6
-
28
-
-
84888213196
-
Whole genome, whole population sequencing reveals that loss of signaling networks is the major adaptive strategy in a constant environment
-
Kvitek DJ, Sherlock G. Whole genome, whole population sequencing reveals that loss of signaling networks is the major adaptive strategy in a constant environment. PLoS Genet 2013; 9: e1003972.
-
(2013)
PLoS Genet
, vol.9
, pp. e1003972
-
-
Kvitek, D.J.1
Sherlock, G.2
-
29
-
-
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 2012; 44: 243-246.
-
(2012)
Nat Genet
, vol.44
, pp. 243-246
-
-
Mathieson, I.1
McVean, G.2
-
30
-
-
84863541347
-
An abundance of rare functional variants in 202 drug target genes sequenced in 14,002 people
-
Nelson MR, Wegmann D, Ehm MG et al: An abundance of rare functional variants in 202 drug target genes sequenced in 14,002 people. Science 2012; 337: 100-104.
-
(2012)
Science
, vol.337
, pp. 100-104
-
-
Nelson, M.R.1
Wegmann, D.2
Ehm, M.G.3
-
31
-
-
84969213492
-
Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls
-
Burton PR, Clayton DG, Cardon LR et al: Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. Nature 2007; 447: 661-678.
-
(2007)
Nature
, vol.447
, pp. 661-678
-
-
Burton, P.R.1
Clayton, D.G.2
Cardon, L.R.3
-
32
-
-
79955483667
-
A framework for variation discovery and genotyping using next-generation DNA sequencing data
-
DePristo MA, Banks E, Poplin R et al: A framework for variation discovery and genotyping using next-generation DNA sequencing data. Nat Genet 2011; 43: 491-498.
-
(2011)
Nat Genet
, vol.43
, pp. 491-498
-
-
DePristo, M.A.1
Banks, E.2
Poplin, R.3
|