-
1
-
-
55449120805
-
Genetic mapping in human disease
-
Altshuler D., Daly M.J., and Lander E.S. Genetic mapping in human disease. Science 322 (2008) 881-888
-
(2008)
Science
, vol.322
, pp. 881-888
-
-
Altshuler, D.1
Daly, M.J.2
Lander, E.S.3
-
2
-
-
70349956433
-
Finding the missing heritability of complex diseases
-
Manolio T.A., Collins F.S., Cox N.J., Goldstein D.B., Hindorff L.A., Hunter D.J., McCarthy M.I., Ramos E.M., Cardon L.R., Chakravarti A., et al. Finding the missing heritability of complex diseases. Nature 461 (2009) 747-753
-
(2009)
Nature
, vol.461
, pp. 747-753
-
-
Manolio, T.A.1
Collins, F.S.2
Cox, N.J.3
Goldstein, D.B.4
Hindorff, L.A.5
Hunter, D.J.6
McCarthy, M.I.7
Ramos, E.M.8
Cardon, L.R.9
Chakravarti, A.10
-
3
-
-
67349179787
-
Massively parallel exon capture and library-free resequencing across 16 genomes
-
Turner E.H., Lee C., Ng S.B., Nickerson D.A., and Shendure J. Massively parallel exon capture and library-free resequencing across 16 genomes. Nat. Methods 6 (2009) 315-316
-
(2009)
Nat. Methods
, vol.6
, pp. 315-316
-
-
Turner, E.H.1
Lee, C.2
Ng, S.B.3
Nickerson, D.A.4
Shendure, J.5
-
4
-
-
62649084535
-
Power of deep, all-exon resequencing for discovery of human trait genes
-
Kryukov G.V., Shpunt A., Stamatoyannopoulos J.A., and Sunyaev S.R. Power of deep, all-exon resequencing for discovery of human trait genes. Proc. Natl. Acad. Sci. USA 106 (2009) 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
-
5
-
-
0034969437
-
Are rare variants responsible for susceptibility to complex diseases?
-
Pritchard J.K. Are rare variants responsible for susceptibility to complex diseases?. Am. J. Hum. Genet. 69 (2001) 124-137
-
(2001)
Am. J. Hum. Genet.
, vol.69
, pp. 124-137
-
-
Pritchard, J.K.1
-
6
-
-
34147116715
-
Most rare missense alleles are deleterious in humans: implications for complex disease and association studies
-
Kryukov G.V., Pennacchio L.A., and Sunyaev S.R. Most rare missense alleles are deleterious in humans: implications for complex disease and association studies. Am. J. Hum. Genet. 80 (2007) 727-739
-
(2007)
Am. J. Hum. Genet.
, vol.80
, pp. 727-739
-
-
Kryukov, G.V.1
Pennacchio, L.A.2
Sunyaev, S.R.3
-
8
-
-
3843056691
-
Multiple rare alleles contribute to low plasma levels of HDL cholesterol
-
Cohen J.C., Kiss R.S., Pertsemlidis A., Marcel Y.L., McPherson R., and Hobbs H.H. Multiple rare alleles contribute to low plasma levels of HDL cholesterol. Science 305 (2004) 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
-
9
-
-
33645103550
-
Sequence variations in PCSK9, low LDL, and protection against coronary heart disease
-
Cohen J.C., Boerwinkle E., Mosley Jr. T.H., and Hobbs H.H. Sequence variations in PCSK9, low LDL, and protection against coronary heart disease. N. Engl. J. Med. 354 (2006) 1264-1272
-
(2006)
N. Engl. J. Med.
, vol.354
, pp. 1264-1272
-
-
Cohen, J.C.1
Boerwinkle, E.2
Mosley Jr., T.H.3
Hobbs, H.H.4
-
10
-
-
34047177395
-
Population-based resequencing of ANGPTL4 uncovers variations that reduce triglycerides and increase HDL
-
Romeo S., Pennacchio L.A., Fu Y., Boerwinkle E., Tybjaerg-Hansen A., Hobbs H.H., and Cohen J.C. Population-based resequencing of ANGPTL4 uncovers variations that reduce triglycerides and increase HDL. Nat. Genet. 39 (2007) 513-516
-
(2007)
Nat. Genet.
, vol.39
, pp. 513-516
-
-
Romeo, S.1
Pennacchio, L.A.2
Fu, Y.3
Boerwinkle, E.4
Tybjaerg-Hansen, A.5
Hobbs, H.H.6
Cohen, J.C.7
-
11
-
-
34147154100
-
Medical sequencing at the extremes of human body mass
-
Ahituv N., Kavaslar N., Schackwitz W., Ustaszewska A., Martin J., Hebert S., Doelle H., Ersoy B., Kryukov G., Schmidt S., et al. Medical sequencing at the extremes of human body mass. Am. J. Hum. Genet. 80 (2007) 779-791
-
(2007)
Am. J. Hum. Genet.
, vol.80
, pp. 779-791
-
-
Ahituv, N.1
Kavaslar, N.2
Schackwitz, W.3
Ustaszewska, A.4
Martin, J.5
Hebert, S.6
Doelle, H.7
Ersoy, B.8
Kryukov, G.9
Schmidt, S.10
-
12
-
-
42649084334
-
Rare independent mutations in renal salt handling genes contribute to blood pressure variation
-
Ji W., Foo J.N., O'Roak B.J., Zhao H., Larson M.G., Simon D.B., Newton-Cheh C., State M.W., Levy D., and Lifton R.P. Rare independent mutations in renal salt handling genes contribute to blood pressure variation. Nat. Genet. 40 (2008) 592-599
-
(2008)
Nat. Genet.
, vol.40
, pp. 592-599
-
-
Ji, W.1
Foo, J.N.2
O'Roak, B.J.3
Zhao, H.4
Larson, M.G.5
Simon, D.B.6
Newton-Cheh, C.7
State, M.W.8
Levy, D.9
Lifton, R.P.10
-
13
-
-
65249131713
-
Rare variants of IFIH1, a gene implicated in antiviral responses, protect against type 1 diabetes
-
Nejentsev S., Walker N., Riches D., Egholm M., and Todd J.A. Rare variants of IFIH1, a gene implicated in antiviral responses, protect against type 1 diabetes. Science 324 (2009) 387-389
-
(2009)
Science
, vol.324
, pp. 387-389
-
-
Nejentsev, S.1
Walker, N.2
Riches, D.3
Egholm, M.4
Todd, J.A.5
-
14
-
-
61749090233
-
Rare loss-of-function mutations in ANGPTL family members contribute to plasma triglyceride levels in humans
-
Romeo S., Yin W., Kozlitina J., Pennacchio L.A., Boerwinkle E., Hobbs H.H., and Cohen J.C. Rare loss-of-function mutations in ANGPTL family members contribute to plasma triglyceride levels in humans. J. Clin. Invest. 119 (2009) 70-79
-
(2009)
J. Clin. Invest.
, vol.119
, pp. 70-79
-
-
Romeo, S.1
Yin, W.2
Kozlitina, J.3
Pennacchio, L.A.4
Boerwinkle, E.5
Hobbs, H.H.6
Cohen, J.C.7
-
15
-
-
50949095168
-
Methods for detecting associations with rare variants for common diseases: application to analysis of sequence data
-
Li B., and Leal S.M. Methods for detecting associations with rare variants for common diseases: application to analysis of sequence data. Am. J. Hum. Genet. 83 (2008) 311-321
-
(2008)
Am. J. Hum. Genet.
, vol.83
, pp. 311-321
-
-
Li, B.1
Leal, S.M.2
-
16
-
-
61449168010
-
A groupwise association test for rare mutations using a weighted sum statistic
-
Madsen B.E., and Browning S.R. A groupwise association test for rare mutations using a weighted sum statistic. PLoS Genet. 5 (2009) e1000384
-
(2009)
PLoS Genet.
, vol.5
-
-
Madsen, B.E.1
Browning, S.R.2
-
17
-
-
0036713510
-
Human non-synonymous SNPs: server and survey
-
Ramensky V., Bork P., and Sunyaev S. Human non-synonymous SNPs: server and survey. Nucleic Acids Res. 30 (2002) 3894-3900
-
(2002)
Nucleic Acids Res.
, vol.30
, pp. 3894-3900
-
-
Ramensky, V.1
Bork, P.2
Sunyaev, S.3
-
18
-
-
77951640946
-
A method and server for predicting damaging missense mutations
-
Adzhubei I.A., Schmidt S., Peshkin L., Ramensky V.E., Gerasimova A., Bork P., Kondrashov A.S., and Sunyaev S.R. A method and server for predicting damaging missense mutations. Nat. Methods 7 (2010) 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
Bork, P.6
Kondrashov, A.S.7
Sunyaev, S.R.8
-
19
-
-
70249111091
-
Targeted capture and massively parallel sequencing of 12 human exomes
-
Ng S.B., Turner E.H., Robertson P.D., Flygare S.D., Bigham A.W., Lee C., Shaffer T., Wong M., Bhattacharjee A., Eichler E.E., et al. Targeted capture and massively parallel sequencing of 12 human exomes. Nature 461 (2009) 272-276
-
(2009)
Nature
, vol.461
, pp. 272-276
-
-
Ng, S.B.1
Turner, E.H.2
Robertson, P.D.3
Flygare, S.D.4
Bigham, A.W.5
Lee, C.6
Shaffer, T.7
Wong, M.8
Bhattacharjee, A.9
Eichler, E.E.10
|