-
1
-
-
34147154100
-
Medical sequencing at the extremes of human body mass
-
Ahituv, N., Kavaslar, N., Schackwitz, W., et al. 2007. Medical sequencing at the extremes of human body mass. Am. J. Hum. Genet. 80, 779-791.
-
(2007)
Am. J. Hum. Genet.
, vol.80
, pp. 779-791
-
-
Ahituv, N.1
Kavaslar, N.2
Schackwitz, W.3
-
2
-
-
77951028197
-
A data-adaptive sum test for disease association with multiple common or rare variants
-
Han, F., and Pan, W. 2010. A data-adaptive sum test for disease association with multiple common or rare variants. Hum. Hered. 70, 4254.
-
(2010)
Hum. Hered.
, vol.70
, pp. 4254
-
-
Han, F.1
Pan, W.2
-
3
-
-
79952253512
-
A new testing strategy to identify rare variants with either risk or protective effect on disease
-
Ionita-Laza, I., Buxbaum, J.D., Laird, N.M., et al. 2011. A new testing strategy to identify rare variants with either risk or protective effect on disease. PLoS Genet. 7, e1001289.
-
(2011)
PLoS Genet.
, vol.7
, pp. e1001289
-
-
Ionita-Laza, I.1
Buxbaum, J.D.2
Laird, N.M.3
-
4
-
-
84878878253
-
Sequence kernel association tests for the combined effect of rare and common variants
-
Ionita-Laza, I., Lee, S., Makarov, V., et al. 2013. Sequence kernel association tests for the combined effect of rare and common variants. Am. J. Hum. Genet. 92, 841-853.
-
(2013)
Am. J. Hum. Genet.
, vol.92
, pp. 841-853
-
-
Ionita-Laza, I.1
Lee, S.2
Makarov, V.3
-
5
-
-
42649084334
-
Rare independent mutations in renal salt handling genes contribute to blood pressure variation
-
Ji, W., Foo, J.N., ORoak, B.J., et al. 2008 Rare independent mutations in renal salt handling genes contribute to blood pressure variation. Nat. Genet. 40, 592-599.
-
(2008)
Nat. Genet.
, vol.40
, pp. 592-599
-
-
Ji, W.1
Foo, J.N.2
Oroak, B.J.3
-
6
-
-
84864942403
-
Optimal unified approach for rare-variant association testing with application to small-sample case-control whole-exome sequencing studies
-
Lee, S., Emond, M.J., Bamshad, M.J., et al. 2012. Optimal unified approach for rare-variant association testing with application to small-sample case-control whole-exome sequencing studies. Am. J. Hum. Genet. 91, 224237.
-
(2012)
Am. J. Hum. Genet.
, vol.91
, pp. 224237
-
-
Lee, S.1
Emond, M.J.2
Bamshad, M.J.3
-
7
-
-
84880294630
-
General Framework for meta-analysis of rare variants in sequencing association studies
-
Lee, S., Teslovich, T.M., Boehnke, M., et al. 2013. General Framework for meta-analysis of rare variants in sequencing association studies. Am. J. Hum. Genet. 93, 42-53.
-
(2013)
Am. J. Hum. Genet.
, vol.93
, pp. 42-53
-
-
Lee, S.1
Teslovich, T.M.2
Boehnke, M.3
-
8
-
-
50949095168
-
Methods for detecting associations with rare variants for common diseases: Application to analysis of sequence data
-
Li, B., and Leal, S. 2008. Methods for detecting associations with rare variants for common diseases: application to analysis of sequence data. Am. J. Hum. Genet. 83, 311321.
-
(2008)
Am. J. Hum. Genet.
, vol.83
, pp. 311321
-
-
Li, B.1
Leal, S.2
-
9
-
-
80052731371
-
A general framework for detecting disease associations with rare variants in sequencing studies
-
Lin, D.Y., and Tang, Z.Z. 2011. A general framework for detecting disease associations with rare variants in sequencing studies. Am. J. Hum. Genet. 89, 354367.
-
(2011)
Am. J. Hum. Genet.
, vol.89
, pp. 354367
-
-
Lin, D.Y.1
Tang, Z.Z.2
-
10
-
-
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, D., and Leal, S. 2010. 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. 6, e1001156.
-
(2010)
PLoS Genet.
, vol.6
, pp. e1001156
-
-
Liu, D.1
Leal, S.2
-
11
-
-
84867249426
-
Estimating genetic effects and quantifying missing heritabaility explained by identified rarevariant associations
-
Liu, D., and Leal, S. 2012. Estimating genetic effects and quantifying missing heritabaility explained by identified rarevariant associations. Am. J. Hum. Genet. 91, 585596.
-
(2012)
Am. J. Hum. Genet.
, vol.91
, pp. 585596
-
-
Liu, D.1
Leal, S.2
-
12
-
-
61449168010
-
A groupwise association test for rare mutations using a weighted sum statistic
-
Madsen, B.E., and Browning, S.R. 2009. A groupwise association test for rare mutations using a weighted sum statistic. PLoS Genet. 5, e1000384.
-
(2009)
PLoS Genet.
, vol.5
, pp. e1000384
-
-
Madsen, B.E.1
Browning, S.R.2
-
13
-
-
70349956433
-
Finding the missing heritability of complex diseases
-
Manolio, T.A., Collins, F.S., Cox, N.J., et al. 2009. Finding the missing heritability of complex diseases. Nature 461, 747-753.
-
(2009)
Nature
, vol.461
, pp. 747-753
-
-
Manolio, T.A.1
Collins, F.S.2
Cox, N.J.3
-
14
-
-
79953752624
-
Testing for an unusual distribution of rare variants
-
Neale, B.M., Rivas, M.A., Voight, B.F., et al. 2011. Testing for an unusual distribution of rare variants. PLoS Genet. 7, e100132.
-
(2011)
PLoS Genet.
, vol.7
, pp. e100132
-
-
Neale, B.M.1
Rivas, M.A.2
Voight, B.F.3
-
15
-
-
65249131713
-
Rare variants of IFIH1 a gene implicated in antiviral responses, protect against type 1 diabetes
-
Nejentsev, S., Walker, N., Riches, D., et al. 2009. Rare variants of IFIH1, a gene implicated in antiviral responses, protect against type 1 diabetes. Science 324, 387-389.
-
(2009)
Science
, vol.324
, pp. 387-389
-
-
Nejentsev, S.1
Walker, N.2
Riches, D.3
-
16
-
-
77953121877
-
Pooled association tests for rare variants in exon-resequencing studies
-
Price, A.L., Kryukov, G.V., de Bakker, P.I., et al. 2010. Pooled association tests for rare variants in exon-resequencing studies. Am. J. Hum. Genet. 86, 832838.
-
(2010)
Am. J. Hum. Genet.
, vol.86
, pp. 832838
-
-
Price, A.L.1
Kryukov, G.V.2
De Bakker, P.I.3
-
17
-
-
34047177395
-
Population-based resequencing of ANGPTL4 uncovers variations that reduce triglycerides and increase HDL
-
Romeo, S., Pennacchio, L.A., Fu, Y., et al. 2007. Population-based resequencing of ANGPTL4 uncovers variations that reduce triglycerides and increase HDL. Nat. Genet. 39, 513516.
-
(2007)
Nat. Genet.
, vol.39
, pp. 513516
-
-
Romeo, S.1
Pennacchio, L.A.2
Fu, Y.3
-
18
-
-
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. 2009. Rare loss-of-function mutations in ANGPTL family members contribute to plasma triglyceride levels in humans. J. Clin. Invest. 119, 7079.
-
(2009)
J. Clin. Invest.
, vol.119
, pp. 7079
-
-
Romeo, S.1
Yin, W.2
Kozlitina, J.3
-
19
-
-
38349178429
-
Novel rare mutations and promoter haplotypes in ABCA1 contribute to low-HDL-C levels
-
Slatter, T.L., Jones, G.T., Williams, M.J., et al. 2008. Novel rare mutations and promoter haplotypes in ABCA1 contribute to low-HDL-C levels. J. Clin. Genet. 73, 179-184.
-
(2008)
J. Clin. Genet.
, vol.73
, pp. 179-184
-
-
Slatter, T.L.1
Jones, G.T.2
Williams, M.J.3
-
20
-
-
84906237549
-
A power set-based statistical selection procedure to locate susceptible rare variants associated with complex traits with sequencing data
-
Sun, H., and Wang, S. 2014. A power set-based statistical selection procedure to locate susceptible rare variants associated with complex traits with sequencing data. Bioinformatics 30, 2317-2323.
-
(2014)
Bioinformatics
, vol.30
, pp. 2317-2323
-
-
Sun, H.1
Wang, S.2
-
21
-
-
39049163023
-
Association between microdeletion and microduplication at 16p11.2 and autism
-
Weiss, L.A., Shen, Y., Korn, J.M., et al. 2008. Association between microdeletion and microduplication at 16p11.2 and autism. N. Engl. J. Med. 358, 667675.
-
(2008)
N. Engl. J. Med.
, vol.358
, pp. 667675
-
-
Weiss, L.A.1
Shen, Y.2
Korn, J.M.3
-
22
-
-
80051499915
-
Rare-variant association testing for sequencing data with the sequence kernel association test
-
Wu, M.C., Lee, S., Cai, T., et al. 2011. Rare-variant association testing for sequencing data with the sequence kernel association test. Am. J. Hum. Genet. 89, 8293.
-
(2011)
Am. J. Hum. Genet.
, vol.89
, pp. 8293
-
-
Wu, M.C.1
Lee, S.2
Cai, T.3
-
23
-
-
84856405512
-
The mystery of missing heritability: Genetic interactions create phantom heritability
-
Zuk, O., Hechter, E., Sunyaev, S.R., et al. 2012. The mystery of missing heritability: genetic interactions create phantom heritability. PNAS 109, 1193-1198.
-
(2012)
PNAS
, vol.109
, pp. 1193-1198
-
-
Zuk, O.1
Hechter, E.2
Sunyaev, S.R.3
|