-
1
-
-
0034969437
-
Are rare variants responsible for susceptibility to complex diseases?
-
Pritchard JK: Are rare variants responsible for susceptibility to complex diseases? Am J Hum Genet 2001; 69: 124-137.
-
(2001)
Am J Hum Genet
, vol.69
, pp. 124-137
-
-
Pritchard, J.K.1
-
2
-
-
0036799545
-
The allelic architecture of human disease genes: Common disease-common variant.or not?
-
Pritchard JK, Cox NJ: The allelic architecture of human disease genes: common disease-common variant.or not? Hum Mol Genet 2002; 11: 2417-2423.
-
(2002)
Hum Mol Genet
, vol.11
, pp. 2417-2423
-
-
Pritchard, J.K.1
Cox, N.J.2
-
3
-
-
0033780104
-
How many diseases does it take to map a gene with SNPs?
-
Weiss KM, Terwilliger JD: How many diseases does it take to map a gene with SNPs? Nat Genet 2000; 26: 151-157.
-
(2000)
Nat Genet
, vol.26
, pp. 151-157
-
-
Weiss, K.M.1
Terwilliger, J.D.2
-
4
-
-
37549056200
-
The emerging landscape of breast cancer susceptibility
-
Stratton MR, Rahman N: The emerging landscape of breast cancer susceptibility. Nat Genet 2008; 40: 17-22.
-
(2008)
Nat Genet
, vol.40
, pp. 17-22
-
-
Stratton, M.R.1
Rahman, N.2
-
5
-
-
33846850422
-
Ten genes for inherited breast cancer
-
Walsh T, King MC: Ten genes for inherited breast cancer. Cancer Cell 2007; 11: 103-105.
-
(2007)
Cancer Cell
, vol.11
, pp. 103-105
-
-
Walsh, T.1
King, M.C.2
-
6
-
-
14644420598
-
Genetic variation in ABC transporter A1 contributes to HDL cholesterol in the general population
-
Frikke-Schmidt R, Nordestgaard BG, Jensen GB, Tybjaerg-Hansen A: Genetic variation in ABC transporter A1 contributes to HDL cholesterol in the general population. J Clin Invest 2004; 114: 1343-1353.
-
(2004)
J Clin Invest
, vol.114
, pp. 1343-1353
-
-
Frikke-Schmidt, R.1
Nordestgaard, B.G.2
Jensen, G.B.3
Tybjaerg-Hansen, A.4
-
7
-
-
3843056691
-
Multiple rare alleles contribute to low plasma levels of HDL cholesterol
-
Cohen JC, Kiss RS, Pertsemlidis A, Marcel YL, McPherson R, Hobbs HH: Multiple rare alleles contribute to low plasma levels of HDL cholesterol. Science 2004; 305: 869-872.
-
(2004)
Science
, vol.305
, pp. 869-872
-
-
Cohen, J.C.1
Kiss, R.S.2
Pertsemlidis, A.3
Marcel, Y.L.4
McPherson, R.5
Hobbs, H.H.6
-
8
-
-
36549003138
-
Two independent alleles at 6q23 associated with risk of rheumatoid arthritis
-
Plenge RM, Cotsapas C, Davies L et al: Two independent alleles at 6q23 associated with risk of rheumatoid arthritis. Nat Genet 2007; 39: 1477-1482.
-
(2007)
Nat Genet
, vol.39
, pp. 1477-1482
-
-
Plenge, R.M.1
Cotsapas, C.2
Davies, L.3
-
9
-
-
36549005027
-
Rheumatoid arthritis association at 6q23
-
Thomson W, Barton A, Ke X et al: Rheumatoid arthritis association at 6q23. Nat Genet 2007; 39: 1431-1433.
-
(2007)
Nat Genet
, vol.39
, pp. 1431-1433
-
-
Thomson, W.1
Barton, A.2
Ke, X.3
-
10
-
-
34249888775
-
Genomewide association analysis identifies loci for type 2 diabetes and triglyceride levels
-
Saxena R, Voight BF, Lyssenko V et al: Genomewide association analysis identifies loci for type 2 diabetes and triglyceride levels. Science 2007; 316: 1331-1336.
-
(2007)
Science
, vol.316
, pp. 1331-1336
-
-
Saxena, R.1
Voight, B.F.2
Lyssenko, V.3
-
11
-
-
34249895023
-
Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes
-
Zeggini E, Weedon MN, Lindgren CM et al: Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes. Science 2007; 316: 1336-1341.
-
(2007)
Science
, vol.316
, pp. 1336-1341
-
-
Zeggini, E.1
Weedon, M.N.2
Lindgren, C.M.3
-
12
-
-
42349112088
-
Genome-wide association studies for complex traits: Consensus, uncertainty and challenges
-
McCarthy MI, Abecasis GR, Cardon LR et al: Genome-wide association studies for complex traits: consensus, uncertainty and challenges. Nat Rev Genet 2008; 9: 356-369.
-
(2008)
Nat Rev Genet
, vol.9
, pp. 356-369
-
-
McCarthy, M.I.1
Abecasis, G.R.2
Cardon, L.R.3
-
13
-
-
42649084334
-
Rare independent mutations in renal salt handling genes contribute to blood pressure variation
-
Ji W, Foo JN, O'Roak BJ et al: Rare independent mutations in renal salt handling genes contribute to blood pressure variation. Nat Genet 2008; 40: 592-599.
-
(2008)
Nat Genet
, vol.40
, pp. 592-599
-
-
Ji, W.1
Foo, J.N.2
O'Roak, B.J.3
-
14
-
-
34147154100
-
Medical sequencing at the extremes of human body mass
-
Ahituv N, Kavaslar N, Schackwitz W et al: Medical sequencing at the extremes of human body mass. Am J Hum Genet 2007; 80: 779-791.
-
(2007)
Am J Hum Genet
, vol.80
, pp. 779-791
-
-
Ahituv, N.1
Kavaslar, N.2
Schackwitz, W.3
-
15
-
-
32444441330
-
Multiple rare variants in NPC1L1 associated with reduced sterol absorption and plasma low-density lipoprotein levels
-
Cohen JC, Pertsemlidis A, Fahmi S et al: Multiple rare variants in NPC1L1 associated with reduced sterol absorption and plasma low-density lipoprotein levels. Proc Natl Acad Sci USA 2006; 103: 1810-1815.
-
(2006)
Proc Natl Acad Sci USA
, vol.103
, pp. 1810-1815
-
-
Cohen, J.C.1
Pertsemlidis, A.2
Fahmi, S.3
-
16
-
-
34047177395
-
Population-based resequencing of ANGPTL4 uncovers variations that reduce triglycerides and increase HDL
-
Romeo S, Pennacchio LA, Fu Y et al: Population-based resequencing of ANGPTL4 uncovers variations that reduce triglycerides and increase HDL. Nat Genet 2007; 39: 513-516.
-
(2007)
Nat Genet
, vol.39
, pp. 513-516
-
-
Romeo, S.1
Pennacchio, L.A.2
Fu, Y.3
-
17
-
-
61749090233
-
Rare loss-of-function mutations in ANGPTL family members contribute to plasma triglyceride levels in humans
-
Romeo S, Yin W, Kozlitina J et al: Rare loss-of-function mutations in ANGPTL family members contribute to plasma triglyceride levels in humans. J Clin Invest 2009; 119: 70-79.
-
(2009)
J Clin Invest
, vol.119
, pp. 70-79
-
-
Romeo, S.1
Yin, W.2
Kozlitina, J.3
-
18
-
-
36549021060
-
Genome-wide in situ exon capture for selective resequencing
-
Hodges E, Xuan Z, Balija V et al: Genome-wide in situ exon capture for selective resequencing. Nat Genet 2007; 39: 1522-1527.
-
(2007)
Nat Genet
, vol.39
, pp. 1522-1527
-
-
Hodges, E.1
Xuan, Z.2
Balija, V.3
-
19
-
-
36248966554
-
Understanding the accuracy of statistical haplotype inference with sequence data of known phase
-
Andreos A, Clark A, Shimmin L et al: Understanding the accuracy of statistical haplotype inference with sequence data of known phase. Genetic Epidemiol 2007; 31: 659-671.
-
(2007)
Genetic Epidemiol
, vol.31
, pp. 659-671
-
-
Andreos, A.1
Clark, A.2
Shimmin, L.3
-
20
-
-
33846014328
-
A strategy to discover genes that carry multiallelic or monoallelic risk for common diseases: A cohort allelic sums test (CAST
-
Morgenthaler S, Thilly WG: A strategy to discover genes that carry multiallelic or monoallelic risk for common diseases: a cohort allelic sums test (CAST). Mutat Res 2007; 615: 28-56.
-
(2007)
Mutat Res
, vol.615
, pp. 28-56
-
-
Morgenthaler, S.1
Thilly, W.G.2
-
21
-
-
50949095168
-
Methods for detecting associations with rare variants for common diseases: Application to analysis of sequence data
-
Li B, Leal SM: Methods for detecting associations with rare variants for common diseases: application to analysis of sequence data. Am J Hum Genet 2008; 83: 311-321.
-
(2008)
Am J Hum Genet
, vol.83
, pp. 311-321
-
-
Li, B.1
Leal, S.M.2
-
22
-
-
61449168010
-
A groupwise association test for rare mutations using a weighted sum statistic
-
Madsen BE, Browning SR: A groupwise association test for rare mutations using a weighted sum statistic. PLoS Genet 2009; 5: e1000384.
-
(2009)
PLoS Genet
, vol.5
-
-
Madsen, B.E.1
Browning, S.R.2
-
23
-
-
77953121877
-
Pooled association tests for rare variants in exon-resequencing studies
-
Price AL, Kryukov GV, de Bakker PI et al: Pooled association tests for rare variants in exon-resequencing studies. Am J Hum Genet 2010; 86: 832-838.
-
(2010)
Am J Hum Genet
, vol.86
, pp. 832-838
-
-
Price, A.L.1
Kryukov, G.V.2
De Bakker, P.I.3
-
24
-
-
78249243049
-
Extending rare-variant testing strategies: Analysis of noncoding sequence and imputed genotypes
-
Zawistowski M, Gopalakrishnan S, Ding J et al: Extending rare-variant testing strategies: analysis of noncoding sequence and imputed genotypes. Am J Hum Genet 2010; 87: 604-617.
-
(2010)
Am J Hum Genet
, vol.87
, pp. 604-617
-
-
Zawistowski, M.1
Gopalakrishnan, S.2
Ding, J.3
-
25
-
-
78149479773
-
Comprehensive Approach to Analyzing Rare Genetic Variants
-
Hoffmann TJ, Marini NJ, Witte JS: Comprehensive Approach to Analyzing Rare Genetic Variants. PLoS One 2010; 5: e13584.
-
(2010)
PLoS One
, vol.5
-
-
Hoffmann, T.J.1
Marini, N.J.2
Witte, J.S.3
-
26
-
-
62649084535
-
Power of deep, all-exon resequencing for discovery of human trait genes
-
Kryukov GV, Shpunt A, Stamatoyannopoulos JA, Sunyaev SR: Power of deep, all-exon resequencing for discovery of human trait genes. Proc Natl Acad Sci USA 2009; 106: 3871-3876.
-
(2009)
Proc Natl Acad Sci USA
, vol.106
, pp. 3871-3876
-
-
Kryukov, G.V.1
Shpunt, A.2
Stamatoyannopoulos, J.A.3
Sunyaev, S.R.4
-
27
-
-
0043122919
-
Sift: Predicting amino acid changes that affect protein function
-
Ng PC, Henikoff S: Sift: predicting amino acid changes that affect protein function. Nucleic Acids Res 2003; 31: 3812-3814.
-
(2003)
Nucleic Acids Res
, vol.31
, pp. 3812-3814
-
-
Ng, P.C.1
Henikoff, S.2
-
28
-
-
10344242920
-
Sequence-based prediction of pathological mutations
-
Ferrer-Costa C, Orozco M, de la Cruz X: Sequence-based prediction of pathological mutations. Proteins 2004; 57: 811-819.
-
(2004)
Proteins
, vol.57
, pp. 811-819
-
-
Ferrer-Costa, C.1
Orozco, M.2
De La Cruz, X.3
-
29
-
-
0036713510
-
Human non-synonymous snps: Server and survey
-
Ramensky V, Bork P, Sunyaev S: Human non-synonymous snps: server and survey. Nucleic Acids Res 2002; 30: 3894-3900.
-
(2002)
Nucleic Acids Res
, vol.30
, pp. 3894-3900
-
-
Ramensky, V.1
Bork, P.2
Sunyaev, S.3
-
30
-
-
78449245227
-
A novel adaptive method for the analysis of next generation sequencing data to detect complex trait associations with rare variants due to gene main effects and interactions
-
Liu DJ, Leal SM: A novel adaptive method for the analysis of next generation sequencing data to detect complex trait associations with rare variants due to gene main effects and interactions. PLoS Genet 2010; 6: e1001156.
-
(2010)
PLoS Genet
, vol.6
-
-
Liu, D.J.1
Leal, S.M.2
-
31
-
-
77951028197
-
A data-adaptive sum test for disease association with multiple common or rare variants
-
Han F, Pan W: A data-adaptive sum test for disease association with multiple common or rare variants. Hum Hered 2010; 70: 42-54.
-
(2010)
Hum Hered
, vol.70
, pp. 42-54
-
-
Han, F.1
Pan, W.2
-
32
-
-
78349264203
-
A covering method for detecting genetic associations between rare variants and common phenotypes
-
Bhatia G, Bansal V, Harismendy O et al: A covering method for detecting genetic associations between rare variants and common phenotypes. PLoS Comput Biol 2010; 6: e1000954.
-
(2010)
PLoS Comput Biol
, vol.6
-
-
Bhatia, G.1
Bansal, V.2
Harismendy, O.3
-
33
-
-
78650751690
-
Efficient utilization of rare variants for detection of disease-related genomic regions
-
Zhang L, Pei Y-F, Li J, Papasian CJ, Deng H-W: Efficient utilization of rare variants for detection of disease-related genomic regions. PLoS One 2010; 5: e14288.
-
(2010)
PLoS One
, vol.5
-
-
Zhang, L.1
Pei, Y.-F.2
Li, J.3
Papasian, C.J.4
Deng, H.-W.5
-
34
-
-
79953752624
-
Testing for an unusual distribution of rare variants
-
Neale BM, Rivas MA, Voight BF et al: Testing for an unusual distribution of rare variants. PLoS Genet 2011; 7: e1001322.
-
(2011)
PLoS Genet
, vol.7
-
-
Neale, B.M.1
Rivas, M.A.2
Voight, B.F.3
-
35
-
-
80051499915
-
Rare variant association testing for sequencing data using the sequence kernel association test (SKAT
-
Wu M, Lee S, Cai T, Li Y, Boehnke M, Lin X: Rare variant association testing for sequencing data using the sequence kernel association test (SKAT). Am J Hum Genet 2011; 89: 82-93.
-
(2011)
Am J Hum Genet
, vol.89
, pp. 82-93
-
-
Wu, M.1
Lee, S.2
Cai, T.3
Li, Y.4
Boehnke, M.5
Lin, X.6
-
37
-
-
82455183281
-
Does pathway analysis make it easier for common variants to tag rare ones?
-
Uh HW, Tsonaka R, Houwing-Duistermaat JJ: Does pathway analysis make it easier for common variants to tag rare ones? BMC Proc 2011; 5(Suppl 9): S90.
-
(2011)
BMC Proc
, vol.5
, Issue.SUPPL. 9
-
-
Uh, H.W.1
Tsonaka, R.2
Houwing-Duistermaat, J.J.3
-
39
-
-
0344033602
-
Detecting disease associations due to linkage disequilibrium using haplotype tags: A class of tests and the determinants of statistical power
-
Chapman JM, Cooper JD, Todd JA, Clayton DG: Detecting disease associations due to linkage disequilibrium using haplotype tags: a class of tests and the determinants of statistical power. Hum Hered 2003; 56: 18-31.
-
(2003)
Hum Hered
, vol.56
, pp. 18-31
-
-
Chapman, J.M.1
Cooper, J.D.2
Todd, J.A.3
Clayton, D.G.4
-
40
-
-
33644974019
-
A fast and flexible statistical model for large-scale population genotype data: Applications to inferring missing genotypes and haplotypic phase
-
Scheet P, Stephens M: A fast and flexible statistical model for large-scale population genotype data: applications to inferring missing genotypes and haplotypic phase. Am J Hum Genet 2006; 78: 629-644.
-
(2006)
Am J Hum Genet
, vol.78
, pp. 629-644
-
-
Scheet, P.1
Stephens, M.2
-
41
-
-
0032714352
-
Genomic control for association studies
-
Devlin B, Roeder K: Genomic control for association studies. Biometrics 1999; 55: 997-1004.
-
(1999)
Biometrics
, vol.55
, pp. 997-1004
-
-
Devlin, B.1
Roeder, K.2
-
43
-
-
0037228081
-
On a semi-parametric test to detect associations between quantitative traits and candidate genes using unrelated individuals
-
Zhang S, Zhu X, Zhao H: On a semi-parametric test to detect associations between quantitative traits and candidate genes using unrelated individuals. Genet Epidemiol 2003; 24: 44-56.
-
(2003)
Genet Epidemiol
, vol.24
, pp. 44-56
-
-
Zhang, S.1
Zhu, X.2
Zhao, H.3
-
44
-
-
33746512512
-
PCs analysis corrects for stratification in genome-wide association studies
-
Price AL, Patterson NJ, Plenge RM, Weinblatt ME, Shadick NA, Reich D: PCs analysis corrects for stratification in genome-wide association studies. Nat Genet 2006; 38: 904-909.
-
(2006)
Nat Genet
, vol.38
, pp. 904-909
-
-
Price, A.L.1
Patterson, N.J.2
Plenge, R.M.3
Weinblatt, M.E.4
Shadick, N.A.5
Reich, D.6
|