-
1
-
-
0033624575
-
The common PPARgamma Pro12Ala polymorphism is associated with decreased risk of type 2 diabetes
-
Altshuler D, Hirschhorn JN, Klannemark M, Lindgren CM, Vohl MC, et al. (2000) The common PPARgamma Pro12Ala polymorphism is associated with decreased risk of type 2 diabetes. Nat Genet 26: 76-80.
-
(2000)
Nat Genet
, vol.26
, pp. 76-80
-
-
Altshuler, D.1
Hirschhorn, J.N.2
Klannemark, M.3
Lindgren, C.M.4
Vohl, M.C.5
-
2
-
-
73349110071
-
Exome sequencing identifies the cause of a mendelian disorder
-
Ng SB, Buckingham KJ, Lee C, Bigham AW, Tabor HK, et al. (2010) Exome sequencing identifies the cause of a mendelian disorder. Nat Genet 42: 30-35.
-
(2010)
Nat Genet
, vol.42
, pp. 30-35
-
-
Ng, S.B.1
Buckingham, K.J.2
Lee, C.3
Bigham, A.W.4
Tabor, H.K.5
-
3
-
-
79951521421
-
Progress and promise of genome-wide association studies for human complex trait genetics
-
Stranger BE, Stahl EA, Raj T (2011) Progress and promise of genome-wide association studies for human complex trait genetics. Genetics 187: 367-383.
-
(2011)
Genetics
, vol.187
, pp. 367-383
-
-
Stranger, B.E.1
Stahl, E.A.2
Raj, T.3
-
4
-
-
84888205882
-
Whole exome sequencing identifies mutation of EDNRA involved in ACTH-independent macronodular adrenal hyperplasia
-
Zhu J, Cui L, Wang W, Hang XY, Xu AX, et al. (2013) Whole exome sequencing identifies mutation of EDNRA involved in ACTH-independent macronodular adrenal hyperplasia. Fam Cancer.
-
(2013)
Fam Cancer
-
-
Zhu, J.1
Cui, L.2
Wang, W.3
Hang, X.Y.4
Xu, A.X.5
-
5
-
-
79952190791
-
-
Data downloaded from
-
De La Vega F, Hyland F, McLaughlin S, Ni J, Fu Y, et al. (2009) Functional analysis of the genetic variation within the genomes of three HapMap individuals obtained by whole-genome, second-generation sequencing. (Data downloaded from http://www.sequenceontology.org/resources/10Gen.html).
-
(2009)
Functional Analysis of the Genetic Variation Within the Genomes of Three HapMap Individuals Obtained by Whole-genome, Second-generation Sequencing
-
-
De La Vega, F.1
Hyland, F.2
McLaughlin, S.3
Ni, J.4
Fu, Y.5
-
6
-
-
55549089660
-
Accurate whole human genome sequencing using reversible terminator chemistry
-
Bentley DR, Balasubramanian S, Swerdlow HP, Smith GP, Milton J, et al. (2008) Accurate whole human genome sequencing using reversible terminator chemistry. Nature 456: 53-59.
-
(2008)
Nature
, vol.456
, pp. 53-59
-
-
Bentley, D.R.1
Balasubramanian, S.2
Swerdlow, H.P.3
Smith, G.P.4
Milton, J.5
-
7
-
-
69749090013
-
Sequence and structural variation in a human genome uncovered by short-read, massively parallel ligation sequencing using two-base encoding
-
McKernan KJ, Peckham HE, Costa GL, McLaughlin SF, Fu Y, et al. (2009) Sequence and structural variation in a human genome uncovered by short-read, massively parallel ligation sequencing using two-base encoding. Genome Res 19: 1527-1541.
-
(2009)
Genome Res
, vol.19
, pp. 1527-1541
-
-
McKernan, K.J.1
Peckham, H.E.2
Costa, G.L.3
McLaughlin, S.F.4
Fu, Y.5
-
8
-
-
55549097849
-
The diploid genome sequence of an Asian individual
-
Wang J, Wang W, Li R, Li Y, Tian G, et al. (2008) The diploid genome sequence of an Asian individual. Nature 456: 60-65.
-
(2008)
Nature
, vol.456
, pp. 60-65
-
-
Wang, J.1
Wang, W.2
Li, R.3
Li, Y.4
Tian, G.5
-
9
-
-
69749124820
-
The first Korean genome sequence and analysis: Full genome sequencing for a socio-ethnic group
-
Ahn SM, Kim TH, Lee S, Kim D, Ghang H, et al. (2009) The first Korean genome sequence and analysis: full genome sequencing for a socio-ethnic group. Genome Res 19: 1622-1629.
-
(2009)
Genome Res
, vol.19
, pp. 1622-1629
-
-
Ahn, S.M.1
Kim, T.H.2
Lee, S.3
Kim, D.4
Ghang, H.5
-
10
-
-
35648976118
-
The diploid genome sequence of an individual human
-
Levy S, Sutton G, Ng PC, Feuk L, Halpern AL, et al. (2007) The diploid genome sequence of an individual human. PLoS Biol 5:e254.
-
(2007)
PLoS Biol
, vol.5
-
-
Levy, S.1
Sutton, G.2
Ng, P.C.3
Feuk, L.4
Halpern, A.L.5
-
11
-
-
42249087308
-
The complete genome of an individual by massively parallel DNA sequencing
-
DOI 10.1038/nature06884, PII NATURE06884
-
Wheeler DA, Srinivasan M, Egholm M, Shen Y, Chen L, et al. (2008) The complete genome of an individual by massively parallel DNA sequencing. Nature 452: 872-876. (Pubitemid 351550870)
-
(2008)
Nature
, vol.452
, Issue.7189
, pp. 872-876
-
-
Wheeler, D.A.1
Srinivasan, M.2
Egholm, M.3
Shen, Y.4
Chen, L.5
McGuire, A.6
He, W.7
Chen, Y.-J.8
Makhijani, V.9
Roth, G.T.10
Gomes, X.11
Tartaro, K.12
Niazi, F.13
Turcotte, C.L.14
Irzyk, G.P.15
Lupski, J.R.16
Chinault, C.17
Song, X.-Z.18
Liu, Y.19
Yuan, Y.20
Nazareth, L.21
Qin, X.22
Muzny, D.M.23
Margulies, M.24
Weinstock, G.M.25
Gibbs, R.A.26
Rothberg, J.M.27
more..
-
12
-
-
74949138753
-
Human genome sequencing using unchained base reads on self-assembling DNA nanoarrays
-
Drmanac R, Sparks AB, Callow MJ, Halpern AL, Burns NL, et al. (2010) Human genome sequencing using unchained base reads on self-assembling DNA nanoarrays. Science 327: 78-81.
-
(2010)
Science
, vol.327
, pp. 78-81
-
-
Drmanac, R.1
Sparks, A.B.2
Callow, M.J.3
Halpern, A.L.4
Burns, N.L.5
-
13
-
-
70249089090
-
Single-molecule sequencing of an individual human genome
-
Pushkarev D, Neff NF, Quake SR (2009) Single-molecule sequencing of an individual human genome. Nat Biotechnol 27: 847-852.
-
(2009)
Nat Biotechnol
, vol.27
, pp. 847-852
-
-
Pushkarev, D.1
Neff, N.F.2
Quake, S.R.3
-
14
-
-
84975795680
-
An integrated map of genetic variation from 1,092 human genomes
-
Abecasis GR, Auton A, Brooks LD, DePristo MA, Durbin RM, et al. (2012) An integrated map of genetic variation from 1,092 human genomes. Nature 491: 56-65.
-
(2012)
Nature
, vol.491
, pp. 56-65
-
-
Abecasis, G.R.1
Auton, A.2
Brooks, L.D.3
DePristo, M.A.4
Durbin, R.M.5
-
15
-
-
77956331627
-
Integrating common and rare genetic variation in diverse human populations
-
Altshuler DM, Gibbs RA, Peltonen L, Dermitzakis E, Schaffner SF, et al. (2010) Integrating common and rare genetic variation in diverse human populations. Nature 467: 52-58.
-
(2010)
Nature
, vol.467
, pp. 52-58
-
-
Altshuler, D.M.1
Gibbs, R.A.2
Peltonen, L.3
Dermitzakis, E.4
Schaffner, S.F.5
-
16
-
-
84875958680
-
Genotype Imputation for Latinos Using the HapMap and 1000 Genomes Project Reference Panels
-
Gao X, Haritunians T, Marjoram P, McKean-Cowdin R, Torres M et al. (2012) Genotype Imputation for Latinos Using the HapMap and 1000 Genomes Project Reference Panels. Front Genet 3: 117.
-
(2012)
Front Genet
, vol.3
, pp. 117
-
-
Gao, X.1
Haritunians, T.2
Marjoram, P.3
McKean-Cowdin, R.4
Torres, M.5
-
17
-
-
84862254279
-
Genotype imputation for African Americans using data from HapMap phase II versus 1000 genomes projects
-
Sung YJ, Gu CC, Tiwari HK, Arnett DK, Broeckel U, et al. (2012) Genotype imputation for African Americans using data from HapMap phase II versus 1000 genomes projects. Genet Epidemiol 36: 508-516.
-
(2012)
Genet Epidemiol
, vol.36
, pp. 508-516
-
-
Sung, Y.J.1
Gu, C.C.2
Tiwari, H.K.3
Arnett, D.K.4
Broeckel, U.5
-
18
-
-
84869021472
-
Copy Number Variation detection from 1000 Genomes Project exon capture sequencing data
-
Wu J, Grzeda KR, Stewart C, Grubert F, Urban AE, et al. (2012) Copy Number Variation detection from 1000 Genomes Project exon capture sequencing data. BMC Bioinformatics 13: 305.
-
(2012)
BMC Bioinformatics
, vol.13
, pp. 305
-
-
Wu, J.1
Grzeda, K.R.2
Stewart, C.3
Grubert, F.4
Urban, A.E.5
-
19
-
-
79961091828
-
Demographic history and rare allele sharing among human populations
-
Gravel S, Henn BM, Gutenkunst RN, Indap AR, Marth GT, et al. (2011) Demographic history and rare allele sharing among human populations. Proc Natl Acad Sci U S A 108: 11983-11988.
-
(2011)
Proc Natl Acad Sci U S A
, vol.108
, pp. 11983-11988
-
-
Gravel, S.1
Henn, B.M.2
Gutenkunst, R.N.3
Indap, A.R.4
Marth, G.T.5
-
20
-
-
84872143942
-
Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants
-
Fu W, O'Connor TD, Jun G, Kang HM, Abecasis G, et al. (2013) Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants. Nature 493: 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
-
21
-
-
78049323331
-
Resequencing of 200 human exomes identifies an excess of low-frequency nonsynonymous coding variants
-
Li Y, Vinckenbosch N, Tian G, Huerta-Sanchez E, Jiang T, et al. (2010) Resequencing of 200 human exomes identifies an excess of low-frequency nonsynonymous coding variants. Nat Genet 42: 969-972.
-
(2010)
Nat Genet
, vol.42
, pp. 969-972
-
-
Li, Y.1
Vinckenbosch, N.2
Tian, G.3
Huerta-Sanchez, E.4
Jiang, T.5
-
22
-
-
77954319020
-
Sequencing of 50 human exomes reveals adaptation to high altitude
-
Yi X, Liang Y, Huerta-Sanchez E, Jin X, Cuo ZX, et al. (2010) Sequencing of 50 human exomes reveals adaptation to high altitude. Science 329: 75-78.
-
(2010)
Science
, vol.329
, pp. 75-78
-
-
Yi, X.1
Liang, Y.2
Huerta-Sanchez, E.3
Jin, X.4
Cuo, Z.X.5
-
23
-
-
84890260477
-
Whole-exome sequencing of 2,000 Danish individuals and the role of rare coding variants in type 2 diabetes
-
Lohmueller KE, Sparso T, Li Q, Andersson E, Korneliussen T, et al. (2013) Whole-exome sequencing of 2,000 Danish individuals and the role of rare coding variants in type 2 diabetes. Am J Hum Genet 93: 1072-1086.
-
(2013)
Am J Hum Genet
, vol.93
, pp. 1072-1086
-
-
Lohmueller, K.E.1
Sparso, T.2
Li, Q.3
Andersson, E.4
Korneliussen, T.5
-
24
-
-
84890797636
-
Exome sequencing identifies potential risk variants for Mendelian disorders at high prevalence in Qatar
-
Rodriguez-Flores JL, Fakhro K, Hackett NR, Salit J, Fuller J, et al. (2014) Exome sequencing identifies potential risk variants for Mendelian disorders at high prevalence in Qatar. Hum Mutat 35: 105-116.
-
(2014)
Hum Mutat
, vol.35
, pp. 105-116
-
-
Rodriguez-Flores, J.L.1
Fakhro, K.2
Hackett, N.R.3
Salit, J.4
Fuller, J.5
-
25
-
-
84872333179
-
Deep whole-genome sequencing of 100 southeast Asian Malays
-
Wong LP, Ong RT, Poh WT, Liu X, Chen P, et al. (2013) Deep whole-genome sequencing of 100 southeast Asian Malays. Am J Hum Genet 92: 52-66.
-
(2013)
Am J Hum Genet
, vol.92
, pp. 52-66
-
-
Wong, L.P.1
Ong, R.T.2
Poh, W.T.3
Liu, X.4
Chen, P.5
-
26
-
-
78049323331
-
Resequencing of 200 human exomes identifies an excess of low-frequency non-synonymous coding variants
-
Li Y, Vinckenbosch N, Tian G, Huerta-Sanchez E, Jiang T, et al. (2010) Resequencing of 200 human exomes identifies an excess of low-frequency non-synonymous coding variants. Nat Genet 42: 969-972.
-
(2010)
Nat Genet
, vol.42
, pp. 969-972
-
-
Li, Y.1
Vinckenbosch, N.2
Tian, G.3
Huerta-Sanchez, E.4
Jiang, T.5
-
27
-
-
85019899073
-
The Arabian Peninsula: Gate for human migrations out of Africa or cul-de-sac? A mitochondrial DNA phylogeographic perspective
-
Petraglia MD, Rose JI, editors. The Netherlands: Springer Press
-
Cabrera V, Abu-Amero K, Larruga J, González A (2009) The Arabian Peninsula: gate for human migrations out of Africa or cul-de-sac? A mitochondrial DNA phylogeographic perspective. In: Petraglia MD, Rose JI, editors.The evolution of human populations in Arabia: Paleoenvironments, Prehistory and Genetics.The Netherlands: Springer Press pp. 79-87.
-
(2009)
The Evolution of Human Populations in Arabia: Paleoenvironments, Prehistory and Genetics
, pp. 79-87
-
-
Cabrera, V.1
Abu-Amero, K.2
Larruga, J.3
González, A.4
-
28
-
-
85045979263
-
Tracking the Origin and Evolution of Human Populations in Arabia
-
Petraglia MD, Rose JI, editors. The Netherlands: Springer
-
Rose JI, Petraglia MD (2009) Tracking the Origin and Evolution of Human Populations in Arabia. In: Petraglia MD, Rose JI, editors.The evolution of human populations in Arabia: Paleoenvironments, Prehistory and Genetics. The Netherlands: Springer pp. 1-12.
-
(2009)
The Evolution of Human Populations in Arabia: Paleoenvironments, Prehistory and Genetics
, pp. 1-12
-
-
Rose, J.I.1
Petraglia, M.D.2
-
29
-
-
79251568290
-
The southern route "out of Africa": Evidence for an early expansion of modern humans into Arabia
-
Armitage SJ, Jasim SA, Marks AE, Parker AG, Usik VI, et al. (2011) The southern route "out of Africa": evidence for an early expansion of modern humans into Arabia. Science 331: 453-456.
-
(2011)
Science
, vol.331
, pp. 453-456
-
-
Armitage, S.J.1
Jasim, S.A.2
Marks, A.E.3
Parker, A.G.4
Usik, V.I.5
-
31
-
-
33745105274
-
Boat remains and maritime trade in the Persian Gulf during the sixth and fifth millennia BC
-
Carter R (2006) Boat remains and maritime trade in the Persian Gulf during the sixth and fifth millennia BC. Antiquity 80: 52-63.
-
(2006)
Antiquity
, vol.80
, pp. 52-63
-
-
Carter, R.1
-
33
-
-
84863440200
-
The Kadhima Project: Investigating an Early Islamic settlement and landscape on Kuwait Bay
-
Seminar for Arabian Studies. British Museum, London, Archaeopress
-
Kennet D, Blair A, Ulrich B, Al-Duwish SM (2011) The Kadhima Project: investigating an Early Islamic settlement and landscape on Kuwait Bay. Proceedings of the Seminar for Arabian Studies 41: Seminar for Arabian Studies. British Museum, London, Archaeopress, 161-172.
-
(2011)
Proceedings of the Seminar for Arabian Studies
, vol.41
, pp. 161-172
-
-
Kennet, D.1
Blair, A.2
Ulrich, B.3
Al-Duwish, S.M.4
-
35
-
-
84902453477
-
-
Available: Accessed 2014 March 6
-
Lawler A (2013) Traders from Ur?. Archaeology Magazine. Available: http://www.archaeology.org/issues/79-1303/features/kuwait/548-meopotamian- urtraders.Accessed 2014 March 6.
-
(2013)
Traders from Ur?. Archaeology Magazine
-
-
Lawler, A.1
-
36
-
-
84902453468
-
-
Available: Accessed 2014 March 6
-
Lawler A (2013) Economic Might. Archaeology Magazine. Available: http://www.archaeology.org/issues/79-1303/features/kuwait/539-dilmunite- failakatemple.Accessed 2014 March 6.
-
(2013)
Economic Might. Archaeology Magazine
-
-
Lawler, A.1
-
39
-
-
84902519914
-
-
Bedford: St. Martin's
-
McKay JP, Hill BD, Buckler J, Ebrey PB, Beck RB, et al. (2011) A History of World Societies, Combined Volume. Bedford: St. Martin's.pp. 165.
-
(2011)
A History of World Societies, Combined Volume
, pp. 165
-
-
McKay, J.P.1
Hill, B.D.2
Buckler, J.3
Ebrey, P.B.4
Beck, R.B.5
-
40
-
-
84872091662
-
The genetic structure of the Kuwaiti population: MtDNA Inter- and intra-population variation
-
Theyab JB, Al-Bustan S, Crawford MH (2012) The genetic structure of the Kuwaiti population: mtDNA Inter- and intra-population variation. Hum Biol 84: 379-403.
-
(2012)
Hum Biol
, vol.84
, pp. 379-403
-
-
Theyab, J.B.1
Al-Bustan, S.2
Crawford, M.H.3
-
41
-
-
77958580702
-
Genetic structure of Kuwaiti population revealed by Y-STR diversity
-
Triki-Fendri S, Alfadhli S, Ayadi I, Kharrat N, Ayadi H, et al. (2010) Genetic structure of Kuwaiti population revealed by Y-STR diversity. Ann Hum Biol 37: 827-835.
-
(2010)
Ann Hum Biol
, vol.37
, pp. 827-835
-
-
Triki-Fendri, S.1
Alfadhli, S.2
Ayadi, I.3
Kharrat, N.4
Ayadi, H.5
-
42
-
-
84884170209
-
Genetic Substructure of Kuwaiti Population Reveals Migration History
-
doi:10.1371/journal.pone.0074913
-
Alsmadi O, Thareja G, Alkayal F, Rajagopalan R, John SE, et al. (2013) Genetic Substructure of Kuwaiti Population Reveals Migration History. PLoS ONE 8(9): e74913. doi:10.1371/journal.pone.0074913.
-
(2013)
PLoS ONE
, vol.8
, Issue.9
-
-
Alsmadi, O.1
Thareja, G.2
Alkayal, F.3
Rajagopalan, R.4
John, S.E.5
-
45
-
-
85198860479
-
-
Westport, CT: Greenwood Press
-
Casey MS (2007) The History of Kuwait. pp. 93, Westport, CT: Greenwood Press.
-
(2007)
The History of Kuwait
, pp. 93
-
-
Casey, M.S.1
-
47
-
-
0035173378
-
DbSNP: The NCBI database of genetic variation
-
Sherry ST, Ward MH, Kholodov M, Baker J, Phan L, et al. (2001) dbSNP: the NCBI database of genetic variation. Nucleic Acids Res 29: 308-311. (Pubitemid 32054478)
-
(2001)
Nucleic Acids Research
, vol.29
, Issue.1
, pp. 308-311
-
-
Sherry, S.T.1
Ward, M.-H.2
Kholodov, M.3
Baker, J.4
Phan, L.5
Smigielski, E.M.6
Sirotkin, K.7
-
48
-
-
80054757012
-
Performance comparison of exome DNA sequencing technologies
-
Clark MJ, Chen R, Lam HYK, Karczewski KJ, Chen R, et al. (2011) Performance comparison of exome DNA sequencing technologies. Nature Biotechnology 29: 908-914.
-
(2011)
Nature Biotechnology
, vol.29
, pp. 908-914
-
-
Clark, M.J.1
Chen, R.2
Lam, H.Y.K.3
Karczewski, K.J.4
Chen, R.5
-
49
-
-
84875391572
-
Ensembl 2013
-
Flicek P, Ahmed I, Amode MR, Barrell D, Beal K, et al. (2013) Ensembl 2013. Nucleic Acids Res 41: D48-55.
-
(2013)
Nucleic Acids Res
, vol.41
-
-
Flicek, P.1
Ahmed, I.2
Amode, M.R.3
Barrell, D.4
Beal, K.5
-
50
-
-
84891783452
-
The Database of Genomic Variants: A curated collection of structural variation in the human genome
-
MacDonald JR, Ziman R, Yuen RK, Feuk L, Scherer SW (2014) The Database of Genomic Variants: a curated collection of structural variation in the human genome. Nucleic Acids Res 42: D986-992.
-
(2014)
Nucleic Acids Res
, vol.42
-
-
MacDonald, J.R.1
Ziman, R.2
Yuen, R.K.3
Feuk, L.4
Scherer, S.W.5
-
51
-
-
84876451303
-
Exome sequencing of only seven Qataris identifies potentially deleterious variants in the Qatari population
-
Rodriguez-Flores JL, Fuller J, Hackett NR, Salit J, Malek JA, et al. (2012) Exome sequencing of only seven Qataris identifies potentially deleterious variants in the Qatari population. PLoS One 7: e47614.
-
(2012)
PLoS One
, vol.7
-
-
Rodriguez-Flores, J.L.1
Fuller, J.2
Hackett, N.R.3
Salit, J.4
Malek, J.A.5
-
52
-
-
79952186533
-
Global analysis of disease-related DNA sequence variation in 10 healthy individuals: Implications for whole genome-based clinical diagnostics
-
Moore B, Hu H, Singleton M, De La Vega FM, Reese MG, et al (2011) Global analysis of disease-related DNA sequence variation in 10 healthy individuals: Implications for whole genome-based clinical diagnostics. Genetics in Medicine, 13: 210-217.
-
(2011)
Genetics in Medicine
, vol.13
, pp. 210-217
-
-
Moore, B.1
Hu, H.2
Singleton, M.3
De La Vega, F.M.4
Reese, M.G.5
-
54
-
-
42349085474
-
The OPRD1 and OPRK1 loci in alcohol or drug dependence: OPRD1 variation modulates substance dependence risk
-
DOI 10.1038/sj.mp.4002035, PII 4002035
-
Zhang H, Kranzler HR, Yang BZ, Luo X, Gelernter J (2008) The OPRD1 and OPRK1 loci in alcohol or drug dependence: OPRD1 variation modulates substance dependence risk. Mol Psychiatry 13: 531-543. (Pubitemid 351556028)
-
(2008)
Molecular Psychiatry
, vol.13
, Issue.5
, pp. 531-543
-
-
Zhang, H.1
Kranzler, H.R.2
Yang, B.-Z.3
Luo, X.4
Gelernter, J.5
-
55
-
-
67649771733
-
Three common polymorphisms in the CYBA gene form a haplotype associated with decreased ROS generation
-
Bedard K, Attar H, Bonnefont J, Jaquet V, Borel C, et al. (2009) Three common polymorphisms in the CYBA gene form a haplotype associated with decreased ROS generation. Hum Mutat 30: 1123-1133.
-
(2009)
Hum Mutat
, vol.30
, pp. 1123-1133
-
-
Bedard, K.1
Attar, H.2
Bonnefont, J.3
Jaquet, V.4
Borel, C.5
-
56
-
-
0033365408
-
Comprehensive mutation analysis of TSC1 and TSC2 - And phenotypic correlations in 150 families with tuberous sclerosis
-
DOI 10.1086/302381
-
Jones AC, Shyamsundar MM, Thomas MW, Maynard J, Idziaszczyk S, et al. (1999) Comprehensive mutation analysis of TSC1 and TSC2-and phenotypic correlations in 150 families with tuberous sclerosis. Am J Hum Genet 64: 1305-1315. (Pubitemid 30468748)
-
(1999)
American Journal of Human Genetics
, vol.64
, Issue.5
, pp. 1305-1315
-
-
Jones, A.C.1
Shyamsundar, M.M.2
Thomas, M.W.3
Maynard, J.4
Idziaszczyk, S.5
Tomkins, S.6
Sampson, J.R.7
Cheadle, J.P.8
-
57
-
-
0032726851
-
Analysis of both TSC1 and TSC2 for germline mutations in 126 unrelated patients with tuberous sclerosis
-
DOI 10.1002/(SICI)1098-1004(199911)14:5<412::AID-H
-
Niida Y, Lawrence-Smith N, Banwell A, Hammer E, Lewis J, et al. (1999) Analysis of both TSC1 and TSC2 for germline mutations in 126 unrelated patients with tuberous sclerosis. Hum Mutat 14: 412-422. (Pubitemid 29529546)
-
(1999)
Human Mutation
, vol.14
, Issue.5
, pp. 412-422
-
-
Niida, Y.1
Lawrence-Smith, N.2
Banwell, A.3
Hammer, E.4
Lewis, J.5
Beauchamp, R.L.6
Sims, K.7
Ramesh, V.8
Ozelius, L.9
-
58
-
-
0028848010
-
A missense mutation in the glucagon receptor gene is associated with non-insulin-dependent diabetes mellitus
-
Hager J, Hansen L, Vaisse C, Vionnet N, Philippi A, et al. (1995) A missense mutation in the glucagon receptor gene is associated with non-insulin-dependent diabetes mellitus. Nat Genet 9: 299-304.
-
(1995)
Nat Genet
, vol.9
, pp. 299-304
-
-
Hager, J.1
Hansen, L.2
Vaisse, C.3
Vionnet, N.4
Philippi, A.5
-
59
-
-
0034795933
-
A role for MLH3 in hereditary nonpolyposis colorectal cancer
-
DOI 10.1038/ng1001-137
-
Wu Y, Berends MJ, Sijmons RH, Mensink RG, Verlind E, et al. (2001) A role for MLH3 in hereditary nonpolyposis colorectal cancer. Nat Genet 29: 137-138. (Pubitemid 32952647)
-
(2001)
Nature Genetics
, vol.29
, Issue.2
, pp. 137-138
-
-
Wu, Y.1
Berends, M.J.W.2
Sijmons, R.H.3
Mensink, R.G.J.4
Verlind, E.5
Kooi, K.A.6
Van Der, S.T.7
Kempinga, C.8
Van Der, Z.A.G.J.9
Hollema, H.10
Buys, C.H.C.M.11
Kleibeuker, J.H.12
Hofstra, R.M.W.13
-
60
-
-
42149188553
-
CYP4F2 genetic variant alters required warfarin dose
-
Caldwell MD, Awad T, Johnson JA, Gage BF, Falkowski M, et al. (2008) CYP4F2 genetic variant alters required warfarin dose. Blood 111: 4106-4112.
-
(2008)
Blood
, vol.111
, pp. 4106-4112
-
-
Caldwell, M.D.1
Awad, T.2
Johnson, J.A.3
Gage, B.F.4
Falkowski, M.5
-
61
-
-
59249102648
-
Reduced neutrophil count in people of African descent is due to a regulatory variant in the Duffy antigen receptor for chemokines gene
-
Reich D, Nalls MA, Kao WH, Akylbekova EL, Tandon A, et al. (2009) Reduced neutrophil count in people of African descent is due to a regulatory variant in the Duffy antigen receptor for chemokines gene. PLoS Genet 5: e1000360.
-
(2009)
PLoS Genet
, vol.5
-
-
Reich, D.1
Nalls, M.A.2
Kao, W.H.3
Akylbekova, E.L.4
Tandon, A.5
-
62
-
-
0036556249
-
Contribution of arylsulfatase A mutations located on the same allele to enzyme activity reduction and metachromatic leukodystrophy severity
-
DOI 10.1007/s00439-002-0701-y
-
Regis S, Corsolini F, Stroppiano M, Cusano R, Filocamo M (2002) Contribution of arylsulfatase A mutations located on the same allele to enzyme activity reduction and metachromatic leukodystrophy severity. Hum Genet 110: 351-355. (Pubitemid 36067463)
-
(2002)
Human Genetics
, vol.110
, Issue.4
, pp. 351-355
-
-
Regis, S.1
Corsolini, F.2
Stroppiano, M.3
Cusano, R.4
Filocamo, M.5
-
63
-
-
0037677728
-
Identification of a novel gene and a common variant associated with uric acid nephrolithiasis in a Sardinian genetic isolate
-
DOI 10.1086/375628
-
Gianfrancesco F, Esposito T, Ombra MN, Forabosco P, Maninchedda G, et al. (2003) Identification of a novel gene and a common variant associated with uric acid nephrolithiasis in a Sardinian genetic isolate. Am J Hum Genet 72: 1479-1491. (Pubitemid 36628387)
-
(2003)
American Journal of Human Genetics
, vol.72
, Issue.6
, pp. 1479-1491
-
-
Gianfrancesco, F.1
Esposito, T.2
Ombra, M.N.3
Forabosco, P.4
Maninchedda, G.5
Fattorini, M.6
Casula, S.7
Vaccargiu, S.8
Casu, G.9
Cardia, F.10
Deiana, I.11
Melis, P.12
Falchi, M.13
Pirastu, M.14
-
64
-
-
78149256303
-
Genome-wide association study identifies genetic determinants of warfarin responsiveness for Japanese
-
Cha PC, Mushiroda T, Takahashi A, Kubo M, Minami S, et al. (2010) Genome-wide association study identifies genetic determinants of warfarin responsiveness for Japanese. Hum Mol Genet 19: 4735-4744.
-
(2010)
Hum Mol Genet
, vol.19
, pp. 4735-4744
-
-
Cha, P.C.1
Mushiroda, T.2
Takahashi, A.3
Kubo, M.4
Minami, S.5
-
65
-
-
63449117825
-
A genome-wide association study confirms VKORC1, CYP2C9, and CYP4F2 as principal genetic determinants of warfarin dose
-
Takeuchi F, McGinnis R, Bourgeois S, Barnes C, Eriksson N, et al. (2009) A genome-wide association study confirms VKORC1, CYP2C9, and CYP4F2 as principal genetic determinants of warfarin dose. PLoS Genet 5: e1000433.
-
(2009)
PLoS Genet
, vol.5
-
-
Takeuchi, F.1
McGinnis, R.2
Bourgeois, S.3
Barnes, C.4
Eriksson, N.5
-
66
-
-
40149090710
-
Differential allelic expression in the human genome: A robust approach to identify genetic and epigenetic cis-acting mechanisms regulating gene expression
-
Serre D, Gurd S, Ge B, Sladek R, Sinnett D, et al (2008) Differential allelic expression in the human genome: a robust approach to identify genetic and epigenetic cis-acting mechanisms regulating gene expression. PLoS Genet. 4: e1000006.
-
(2008)
PLoS Genet
, vol.4
-
-
Serre, D.1
Gurd, S.2
Ge, B.3
Sladek, R.4
Sinnett, D.5
-
67
-
-
79961200270
-
Risk factors associated with anemia and iron deficiency among Kuwaiti pregnant women
-
Ahmed F, Al-Sumaie MA (2011) Risk factors associated with anemia and iron deficiency among Kuwaiti pregnant women. Int J Food Sci Nutr 62: 585-592.
-
(2011)
Int J Food Sci Nutr
, vol.62
, pp. 585-592
-
-
Ahmed, F.1
Al-Sumaie, M.A.2
-
68
-
-
0017055584
-
Hemoglobin Riyadh-alpha2beta2 (120(GH3)Lys replaced by Asn). A new variant found in association with alpha-thalassemia and iron deficiency
-
El-Hazmi MA, Lehmann H (1976) Hemoglobin Riyadh-alpha2beta2 (120(GH3)Lys replaced by Asn). A new variant found in association with alpha-thalassemia and iron deficiency. Hemoglobin 1: 59-74.
-
(1976)
Hemoglobin
, vol.1
, pp. 59-74
-
-
El-Hazmi, M.A.1
Lehmann, H.2
-
69
-
-
84875951139
-
Comprehensive characterization of human genome variation by high coverage whole-genome sequencing of forty four Caucasians
-
Shen H, Li J, Zhang J, Xu C, Jiang Y, et al. (2013) Comprehensive characterization of human genome variation by high coverage whole-genome sequencing of forty four Caucasians. PLoS One 8: e59494.
-
(2013)
PLoS One
, vol.8
-
-
Shen, H.1
Li, J.2
Zhang, J.3
Xu, C.4
Jiang, Y.5
-
70
-
-
77149131510
-
The emergence of Y-chromosome haplogroup J1e among Arabic-speaking populations
-
Chiaroni J, King RJ, Myres NM, Henn BM, Ducourneau A, et al. (2010) The emergence of Y-chromosome haplogroup J1e among Arabic-speaking populations. Eur J Hum Genet 18: 348-353.
-
(2010)
Eur J Hum Genet
, vol.18
, pp. 348-353
-
-
Chiaroni, J.1
King, R.J.2
Myres, N.M.3
Henn, B.M.4
Ducourneau, A.5
-
71
-
-
69649109364
-
Circos: An information aesthetic for comparative genomics
-
Krzywinski M, Schein J, Birol I, Connors J, Gascoyne R, et al. (2009) Circos: an information aesthetic for comparative genomics. Genome Res 19: 1639-1645.
-
(2009)
Genome Res
, vol.19
, pp. 1639-1645
-
-
Krzywinski, M.1
Schein, J.2
Birol, I.3
Connors, J.4
Gascoyne, R.5
-
72
-
-
84878185109
-
Quality of anticoagulation with warfarin across Kuwait
-
Zubaid M, Saad H, Ridha M, Nair MKK, Rashed W, et al. (2013) Quality of anticoagulation with warfarin across Kuwait. Hellenic J Cardiol 54: 102-106.
-
(2013)
Hellenic J Cardiol
, vol.54
, pp. 102-106
-
-
Zubaid, M.1
Saad, H.2
Ridha, M.3
Nair, M.K.K.4
Rashed, W.5
-
74
-
-
0023719865
-
Auditory brainstem responses (ABR) in children with neurological disorders
-
El Khateeb I, Abdul Razzak B, Moosa A (1988) Auditory brainstem responses (ABR) in children with neurological disorders. Brain Dev.10: 243-248.
-
(1988)
Brain Dev
, vol.10
, pp. 243-248
-
-
El Khateeb, I.1
Abdul Razzak, B.2
Moosa, A.3
-
75
-
-
0028459343
-
Late infantile metachromatic leucodystrophy in two siblings
-
Koul RL, Gururaj A, Chacko AP, Elbualy MS, Bhusnurmath SR, et al. (1994) Late infantile metachromatic leucodystrophy in two siblings. Indian Pediatr. 31: 694-698.
-
(1994)
Indian Pediatr
, vol.31
, pp. 694-698
-
-
Koul, R.L.1
Gururaj, A.2
Chacko, A.P.3
Elbualy, M.S.4
Bhusnurmath, S.R.5
-
76
-
-
17244364903
-
Common autosomal recessive diseases in Oman derived from a hospital-based registry
-
DOI 10.1159/000083334
-
Rajab A, Bappal B, Al-Shaikh H, Al-Khusaibi S, Mohammed AJ (2005). Common autosomal recessive diseases in Oman derived from a hospital-based registry. Community Genet. 8: 27-30. (Pubitemid 40529173)
-
(2005)
Community Genetics
, vol.8
, Issue.1
, pp. 27-30
-
-
Rajab, A.1
Bappal, B.2
Al-Shaikh, H.3
Al-Khusaibi, S.4
Mohammed, A.J.5
-
77
-
-
0028794623
-
Multiple mutations are responsible for the high frequency of metachromatic leukodystrophy in a small geographic area
-
Heinisch U, Zlotogora J, Kafert S, Gieselmann V (1995) Multiple mutations are responsible for the high frequency of metachromatic leukodystrophy in a small geographic area. Am J Hum Genet 56: 51-57.
-
(1995)
Am J Hum Genet
, vol.56
, pp. 51-57
-
-
Heinisch, U.1
Zlotogora, J.2
Kafert, S.3
Gieselmann, V.4
-
78
-
-
0027936724
-
A single origin for the most frequent mutation causing late infantile metachromatic leucodystrophy
-
Zlotogora J, Furman-Shaharabani Y, Harris A, Barth ML, von Figura K, et al. (1994) A single origin for the most frequent mutation causing late infantile metachromatic leucodystrophy. J Med Genet. 31: 672-674. (Pubitemid 24296608)
-
(1994)
Journal of Medical Genetics
, vol.31
, Issue.9
, pp. 672-674
-
-
Zlotogora, J.1
Furman-Shaharabani, Y.2
Harris, A.3
Barth, M.L.4
Von Figura, K.5
Gieselmann, V.6
-
79
-
-
0036190154
-
HbVar. A relational database of human hemoglobin variants and thalassemia mutations at the globin gene server
-
DOI 10.1002/humu.10044
-
Hardison RC, Chui DH, Giardine B, Riemer C, Patrinos GP, et al. (2002) HbVar: A relational database of human hemoglobin variants and thalassemia mutations at the globin gene server. Hum Mutat, 19: 225-233. (Pubitemid 34195183)
-
(2002)
Human Mutation
, vol.19
, Issue.3
, pp. 225-233
-
-
Hardison, R.C.1
Chui, D.H.K.2
Giardine, B.3
Riemer, C.4
Patrinos, G.P.5
Anagnou, N.6
Miller, W.7
Wajcman, H.8
-
80
-
-
0032005167
-
Electronic access to sequence alignments, experimental results, and human mutations as an aid to studying globin gene regulation
-
DOI 10.1006/geno.1997.5147
-
Hardison R, Riemer C, Chui DHK, Huisman THJ, Miller W (1998) Electronic access to sequence alignments, experimental results and human mutations as an aid to studying globin gene regulation. Genomics 47: 429-437. (Pubitemid 28110661)
-
(1998)
Genomics
, vol.47
, Issue.3
, pp. 429-437
-
-
Hardison, R.1
Riemer, C.2
Chui, D.H.K.3
Huisman, T.H.J.4
Miller, W.5
-
81
-
-
84920477002
-
Genetic diversity among Arabs
-
Teebi AS editor. Berlin Heidelberg: Springer
-
Teebi AS (2010) Genetic diversity among Arabs. In: Teebi AS editor.Genetic disorders among arab populations.Berlin Heidelberg: Springer. pp. 3-34.
-
(2010)
Genetic Disorders among Arab Populations
, pp. 3-34
-
-
Teebi, A.S.1
-
82
-
-
84856390647
-
A comparative study of hematological parameters of α and β thalassemias in a high prevalence zone: Saudi Arabia
-
Mehdi SR, Al Dahmash BA (2011) A comparative study of hematological parameters of α and β thalassemias in a high prevalence zone: Saudi Arabia. Indian Journal of Human Genetics, 17: 207-211.
-
(2011)
Indian Journal of Human Genetics
, vol.17
, pp. 207-211
-
-
Mehdi, S.R.1
Al Dahmash, B.A.2
-
83
-
-
0036122108
-
Hemoglobin electrophoresis and hemoglobinopathies in Kuwait
-
Marouf R, D'souza TM, Adekile AD (2002) Hemoglobin electrophoresis and hemoglobinopathies in Kuwait. Med Princ Pract. 11: 38-41.
-
(2002)
Med Princ Pract
, vol.11
, pp. 38-41
-
-
Marouf, R.1
D'souza, T.M.2
Adekile, A.D.3
-
84
-
-
84881531548
-
Novel dominant beta-thalassemia: Hb Boston-Kuwait [Codon 139/140(+T)]
-
Croteau SE, Luo HY, Lehmann LE, Chui DH, Neufeld EJ (2013) Novel dominant beta-thalassemia: Hb Boston-Kuwait [Codon 139/140(+T)]. Pediatr Blood Cancer 60: E131-134.
-
(2013)
Pediatr Blood Cancer
, vol.60
-
-
Croteau, S.E.1
Luo, H.Y.2
Lehmann, L.E.3
Chui, D.H.4
Neufeld, E.J.5
-
85
-
-
70949088600
-
The background of mitochondrial DNA haplogroup J increases the sensitivity of Leber's hereditary optic neuropathy cells to 2,5-hexanedione toxicity
-
Ghelli A, Porcelli AM, Zanna C, Vidoni S, Mattioli S, et al. (2009) The background of mitochondrial DNA haplogroup J increases the sensitivity of Leber's hereditary optic neuropathy cells to 2,5-hexanedione toxicity. PLoS One 4: e7922.
-
(2009)
PLoS One
, vol.4
-
-
Ghelli, A.1
Porcelli, A.M.2
Zanna, C.3
Vidoni, S.4
Mattioli, S.5
-
86
-
-
65749119166
-
Mitochondrial DNA haplogroup T is associated with coronary artery disease and diabetic retinopathy: A case control study
-
Kofler B, Mueller EE, Eder W, Stanger O, Maier R, et al. (2009) Mitochondrial DNA haplogroup T is associated with coronary artery disease and diabetic retinopathy: a case control study. BMC Med Genet 10: 35.
-
(2009)
BMC Med Genet
, vol.10
, pp. 35
-
-
Kofler, B.1
Mueller, E.E.2
Eder, W.3
Stanger, O.4
Maier, R.5
-
87
-
-
85069329698
-
Ancient European genomes reveal jumbled ancestry
-
doi:10.1038/nature.2014.14456
-
Callawat E (2014) Ancient European genomes reveal jumbled ancestry. Nature News doi:10.1038/nature.2014.14456.
-
(2014)
Nature News
-
-
Callawat, E.1
-
88
-
-
84915741109
-
Ancient human genomes suggest three ancestral populations for present-day Europeans
-
Preprint at doi: 10.1101/001552
-
Lazaridis I, Patterson N, Mittnik A, Renaud G, Mallick S, et al. (2013) Ancient human genomes suggest three ancestral populations for present-day Europeans. Preprint at bioRxiv: The Preprint Server for Biology doi: 10.1101/001552 http://dx.doi.org/10.1101/001552].
-
(2013)
bioRxiv: The Preprint Server for Biology
-
-
Lazaridis, I.1
Patterson, N.2
Mittnik, A.3
Renaud, G.4
Mallick, S.5
-
89
-
-
33746523403
-
The germinating seed of Arab genomics
-
Editorial
-
Editorial (2006) The germinating seed of Arab genomics. Nature Genetics 38: 851.
-
(2006)
Nature Genetics
, vol.38
, pp. 851
-
-
-
90
-
-
0041817568
-
Inference of population structure using multilocus genotype data: Linked loci and correlated allele frequencies
-
Falush D, Stephens M, Pritchard JK (2003) Inference of population structure using multilocus genotype data: linked loci and correlated allele frequencies. Genetics 164: 1567-1587. (Pubitemid 37102217)
-
(2003)
Genetics
, vol.164
, Issue.4
, pp. 1567-1587
-
-
Falush, D.1
Stephens, M.2
Pritchard, J.K.3
-
91
-
-
2042437650
-
Initial sequencing and analysis of the human genome
-
Lander ES, Linton LM, Birren B, Nusbaum C, Zody MC, et al. (2001) Initial sequencing and analysis of the human genome. Nature 409: 860-921.
-
(2001)
Nature
, vol.409
, pp. 860-921
-
-
Lander, E.S.1
Linton, L.M.2
Birren, B.3
Nusbaum, C.4
Zody, M.C.5
-
92
-
-
67649884743
-
Fast and accurate short read alignment with Burrows-Wheeler transform
-
Li H, Durbin R (2009) Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics 25: 1754-1760.
-
(2009)
Bioinformatics
, vol.25
, pp. 1754-1760
-
-
Li, H.1
Durbin, R.2
-
93
-
-
68549104404
-
The Sequence Alignment/Map format and SAMtools
-
Li H, Handsaker B, Wysoker A, Fennell T, Ruan J, et al. (2009) The Sequence Alignment/Map format and SAMtools. Bioinformatics 25: 2078-2079.
-
(2009)
Bioinformatics
, vol.25
, pp. 2078-2079
-
-
Li, H.1
Handsaker, B.2
Wysoker, A.3
Fennell, T.4
Ruan, J.5
-
94
-
-
84857956783
-
Detecting and annotating genetic variations using the HugeSeq pipeline
-
Lam HY, Pan C, Clark MJ, Lacroute P, Chen R, et al. (2012) Detecting and annotating genetic variations using the HugeSeq pipeline. Nat Biotechnol 30: 226-229.
-
(2012)
Nat Biotechnol
, vol.30
, pp. 226-229
-
-
Lam, H.Y.1
Pan, C.2
Clark, M.J.3
Lacroute, P.4
Chen, R.5
-
95
-
-
77956295988
-
The Genome Analysis Toolkit: A MapReduce framework for analyzing nextgeneration DNA sequencing data
-
McKenna A, Hanna M, Banks E, Sivachenko A, Cibulskis K, et al. (2010) The Genome Analysis Toolkit: a MapReduce framework for analyzing nextgeneration DNA sequencing data. Genome Res 20: 1297-1303.
-
(2010)
Genome Res
, vol.20
, pp. 1297-1303
-
-
McKenna, A.1
Hanna, M.2
Banks, E.3
Sivachenko, A.4
Cibulskis, K.5
-
96
-
-
79955483667
-
A framework for variation discovery and genotyping using next-generation DNA sequencing data
-
DePristo MA, Banks E, Poplin R, Garimella KV, Maguire JR, et al. (2011) A framework for variation discovery and genotyping using next-generation DNA sequencing data. Nat Genet 43: 491-498.
-
(2011)
Nat Genet
, vol.43
, pp. 491-498
-
-
DePristo, M.A.1
Banks, E.2
Poplin, R.3
Garimella, K.V.4
Maguire, J.R.5
-
97
-
-
79960405019
-
The variant call format and VCFtools
-
Danecek P, Auton A, Abecasis G, Albers CA, Banks E, et al. (2011) The variant call format and VCFtools. Bioinformatics 27: 2156-2158.
-
(2011)
Bioinformatics
, vol.27
, pp. 2156-2158
-
-
Danecek, P.1
Auton, A.2
Abecasis, G.3
Albers, C.A.4
Banks, E.5
-
98
-
-
84890191949
-
Delineating the genetic heterogeneity of ALS using targeted high-throughput sequencing
-
Kenna KP, McLaughlin RL, Byrne S, Elamin M, Heverin M, et al. (2013) Delineating the genetic heterogeneity of ALS using targeted high-throughput sequencing. J Med Genet 50: 776-783.
-
(2013)
J Med Genet
, vol.50
, pp. 776-783
-
-
Kenna, K.P.1
McLaughlin, R.L.2
Byrne, S.3
Elamin, M.4
Heverin, M.5
-
99
-
-
84880062762
-
Best practices and joint calling of the HumanExome BeadChip: The CHARGE Consortium
-
Grove ML, Yu B, Cochran BJ, Haritunians T, Bis JC, et al. (2013) Best practices and joint calling of the HumanExome BeadChip: the CHARGE Consortium. PLoS One 8: e68095.
-
(2013)
PLoS One
, vol.8
-
-
Grove, M.L.1
Yu, B.2
Cochran, B.J.3
Haritunians, T.4
Bis, J.C.5
-
101
-
-
68149165614
-
Predicting the effects of coding nonsynonymous variants on protein function using the SIFT algorithm
-
Kumar P, Henikoff S, Ng PC (2009) Predicting the effects of coding nonsynonymous variants on protein function using the SIFT algorithm. Nat Protoc 4: 1073-1081.
-
(2009)
Nat Protoc
, vol.4
, pp. 1073-1081
-
-
Kumar, P.1
Henikoff, S.2
Ng, P.C.3
-
102
-
-
77951640946
-
A method and server for predicting damaging missense mutations
-
Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, et al. (2010) A method and server for predicting damaging missense mutations. Nat Methods 7: 248-249.
-
(2010)
Nat Methods
, vol.7
, pp. 248-249
-
-
Adzhubei, I.A.1
Schmidt, S.2
Peshkin, L.3
Ramensky, V.E.4
Gerasimova, A.5
-
103
-
-
84891790401
-
The NHGRI GWAS Catalog, a curated resource of SNP-trait associations
-
Doi:10.1093/nar/gkt1229. First published online: 2013 Dec 6
-
Welter D, MacArthur J, Morales J, Burdett T, Hall P, et al (2013) The NHGRI GWAS Catalog, a curated resource of SNP-trait associations. Nucl Acids Res. Doi:10.1093/nar/gkt1229. First published online: 2013 Dec 6.
-
(2013)
Nucl Acids Res
-
-
Welter, D.1
MacArthur, J.2
Morales, J.3
Burdett, T.4
Hall, P.5
-
104
-
-
69549116107
-
BreakDancer: An algorithm for high-resolution mapping of genomic structural variation
-
Chen K, Wallis JW, McLellan MD, Larson DE, Kalicki JM, et al. (2009) BreakDancer: an algorithm for high-resolution mapping of genomic structural variation. Nat Methods 6: 677-681.
-
(2009)
Nat Methods
, vol.6
, pp. 677-681
-
-
Chen, K.1
Wallis, J.W.2
McLellan, M.D.3
Larson, D.E.4
Kalicki, J.M.5
-
105
-
-
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 MH, Long Q, Apweiler R, Ning Z (2009) 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)
Bioinformatics
, vol.25
, pp. 2865-2871
-
-
Ye, K.1
Schulz, M.H.2
Long, Q.3
Apweiler, R.4
Ning, Z.5
-
106
-
-
79951970227
-
CNVnator: An approach to discover, genotype, and characterize typical and atypical CNVs from family and population genome sequencing
-
Abyzov A, Urban AE, Snyder M, Gerstein M (2011) CNVnator: an approach to discover, genotype, and characterize typical and atypical CNVs from family and population genome sequencing. Genome Res 21: 974-984.
-
(2011)
Genome Res
, vol.21
, pp. 974-984
-
-
Abyzov, A.1
Urban, A.E.2
Snyder, M.3
Gerstein, M.4
-
107
-
-
74049093136
-
Nucleotide-resolution analysis of structural variants using BreakSeq and a breakpoint library
-
Lam HY, Mu XJ, Stutz AM, Tanzer A, Cayting PD, et al. (2010) Nucleotide-resolution analysis of structural variants using BreakSeq and a breakpoint library. Nat Biotechnol 28: 47-55.
-
(2010)
Nat Biotechnol
, vol.28
, pp. 47-55
-
-
Lam, H.Y.1
Mu, X.J.2
Stutz, A.M.3
Tanzer, A.4
Cayting, P.D.5
-
108
-
-
77956534324
-
ANNOVAR: Functional annotation of genetic variants from high-throughput sequencing data
-
Wang K, Li M, Hakonarson H (2010) ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Res 38: e164.
-
(2010)
Nucleic Acids Res
, vol.38
-
-
Wang, K.1
Li, M.2
Hakonarson, H.3
-
109
-
-
4444291843
-
Detection of large-scale variation in the human genome
-
DOI 10.1038/ng1416
-
Iafrate AJ, Feuk L, Rivera MN, Listewnik ML, Donahoe PK, et al. (2004) Detection of large-scale variation in the human genome. Nat Genet 36: 949-951. (Pubitemid 39167488)
-
(2004)
Nature Genetics
, vol.36
, Issue.9
, pp. 949-951
-
-
Iafrate, A.J.1
Feuk, L.2
Rivera, M.N.3
Listewnik, M.L.4
Donahoe, P.K.5
Qi, Y.6
Scherer, S.W.7
Lee, C.8
-
110
-
-
84875404794
-
The UCSC Genome Browser database: Extensions and updates 2013
-
Meyer LR, Zweig AS, Hinrichs AS, Karolchik D, Kuhn RM, et al. (2013) The UCSC Genome Browser database: extensions and updates 2013. Nucleic Acids Res 41: D64-69.
-
(2013)
Nucleic Acids Res
, vol.41
-
-
Meyer, L.R.1
Zweig, A.S.2
Hinrichs, A.S.3
Karolchik, D.4
Kuhn, R.M.5
-
111
-
-
84902525809
-
-
R Development Core Team. for statistical R Foundation for Statistical Computing, Vienna, Austria. 3-900051-07-0
-
R Development Core Team. 2004. for statistical R: A language and environment computing. R Foundation for Statistical Computing, Vienna, Austria. 3-900051-07-0.
-
(2004)
R: A Language and Environment Computing
-
-
-
112
-
-
0000122573
-
PHYLIP - Phylogeny Inference Package (Version 3.2)
-
Felsenstein, J 1989 PHYLIP - Phylogeny Inference Package (Version 3.2). Cladistics 5: 164-166
-
(1989)
Cladistics
, vol.5
, pp. 164-166
-
-
Felsenstein, J.1
-
113
-
-
0036911353
-
Interrogating a high-density SNP map for signitures of natural selection
-
DOI 10.1101/gr.631202
-
Akey JM, Zhang G, Zhang K, Jin L, Shriver MD (2002) Interrogating a high-density SNP map for signatures of natural selection. Genome Res 12: 1805-1814. (Pubitemid 35469929)
-
(2002)
Genome Research
, vol.12
, Issue.12
, pp. 1805-1814
-
-
Akey, J.M.1
Zhang, G.2
Zhang, K.3
Jin, L.4
Shriver, M.D.5
-
114
-
-
0036020892
-
A Direct Approach to False Discovery Rates
-
Storey J 2001 A Direct Approach to False Discovery Rates. J R Statist Soc B 64: 479-498.
-
(2001)
J R Statist Soc B
, vol.64
, pp. 479-498
-
-
Storey, J.1
-
115
-
-
0032868141
-
Reanalysis and revision of the cambridge reference sequence for human mitochondrial DNA [5]
-
DOI 10.1038/13779
-
Andrews RM, Kubacka I, Chinnery PF, Lightowlers RN, Turnbull DM, et al. (1999) Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA. Nat Genet 23: 147. (Pubitemid 29455385)
-
(1999)
Nature Genetics
, vol.23
, Issue.2
, pp. 147
-
-
Andrews, R.M.1
Kubacka, I.2
Chinnery, P.F.3
Lightowlers, R.N.4
Turnbull, D.M.5
Howell, N.6
-
116
-
-
78650459836
-
HaploGrep: A fast and reliable algorithm for automatic classification of mitochondrial DNA haplogroups
-
Kloss-Brandstatter A, Pacher D, Schonherr S, Weissensteiner H, Binna R, et al. (2011) HaploGrep: a fast and reliable algorithm for automatic classification of mitochondrial DNA haplogroups. Hum Mutat 32: 25-32.
-
(2011)
Hum Mutat
, vol.32
, pp. 25-32
-
-
Kloss-Brandstatter, A.1
Pacher, D.2
Schonherr, S.3
Weissensteiner, H.4
Binna, R.5
-
117
-
-
84874364784
-
AMY-tree: An algorithm to use whole genome SNP calling for Y chromosomal phylogenetic applications
-
Van Geystelen A, Decorte R, Larmuseau MH (2013) AMY-tree: an algorithm to use whole genome SNP calling for Y chromosomal phylogenetic applications. BMC Genomics 14: 101.
-
(2013)
BMC Genomics
, vol.14
, pp. 101
-
-
Van Geystelen, A.1
Decorte, R.2
Larmuseau, M.H.3
-
118
-
-
84875582766
-
Visualizing next-generation sequencing data with JBrowse
-
Westesson O, Skinner M, Holmes I (2013) Visualizing next-generation sequencing data with JBrowse. Brief Bioinform 14: 172-177.
-
(2013)
Brief Bioinform
, vol.14
, pp. 172-177
-
-
Westesson, O.1
Skinner, M.2
Holmes, I.3
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