Whole-exome sequencing identifies rare and low-frequency coding variants associated with LDL cholesterol.
暂无分享,去创建一个
Jennifer G. Robinson | Kyle J. Gaulton | Emily H Turner | Ellen M. Schmidt | C. Carlson | M. Rieder | M. Fornage | A. Hofman | A. Uitterlinden | T. Assimes | A. Reiner | D. Levy | M. McCarthy | M. Rivas | S. Gabriel | G. Abecasis | H. Kang | T. Lumley | D. Altshuler | E. Boerwinkle | D. Nickerson | C. Lindgren | L. Groop | M. Boehnke | Joshua D. Smith | V. Gudnason | P. Sætrom | Qunyuan Zhang | I. Borecki | Albert Vernon Smith | C. Kooperberg | A. Folsom | D. Lin | T. Meitinger | B. Psaty | D. Siscovick | E. Lange | J. Flannick | D. Ruderfer | C. Willer | Yun Li | S. Kathiresan | J. Rotter | I. Rudan | E. Stahl | A. Isaacs | C. V. van Duijn | L. Cupples | J. Robinson | C. O’Donnell | R. Jackson | K. North | U. Peters | R. Do | G. Peloso | James G. Wilson | C. Bizon | J. Bis | G. Jun | O. Gottesman | E. Bottinger | S. Rich | C. Hayward | W. Post | M. Feitosa | N. Franceschini | X. Sim | A. Manning | A. Correa | Q. Duan | P. Schreiner | E. Fox | G. Jarvik | C. Ballantyne | Y. E. Chen | R. Loos | O. Holmen | K. Hveem | E. Schmidt | M. Griswold | P. Auer | C. Fuchsberger | A. Locke | Yingchang Lu | L. Lange | Jacy R. Crosby | H. Taylor | R. Tracy | J. Huffman | D. Crosslin | D. Farlow | He Zhang | J. Jakobsdóttir | E. Rosenthal | Zheng-Zheng Tang | Shuo Jiao | C. Wassel | Chenyi Xue | Youna Hu | M. Tsai | Kuo-Ping Li | Ji Zhang | P. Durda | L. Martin | Deborah N. Farlow | A. Smith | K. Gaulton | Kuo- Li | Emily H. Turner | R. Jackson | A. Smith | A. Uitterlinden | Ellen M. Schmidt | A. Hofman | C. V. van Duijn | B. Psaty | R. Loos | M. McCarthy | M. McCarthy | D. Levy | A. Correa | R. Jackson
[1] T. Dawber,et al. The Framingham Study , 2014 .
[2] Tanya M. Teslovich,et al. Discovery and refinement of loci associated with lipid levels , 2013, Nature Genetics.
[3] K. Hveem,et al. COHORT PROFILE Cohort Profile : The HUNT Study , Norway , 2013 .
[4] M. Rieder,et al. Optimal unified approach for rare-variant association testing with application to small-sample case-control whole-exome sequencing studies. , 2012, American journal of human genetics.
[5] Jacob A. Tennessen,et al. Evolution and Functional Impact of Rare Coding Variation from Deep Sequencing of Human Exomes , 2012, Science.
[6] D. Mozaffarian,et al. Heart disease and stroke statistics--2012 update: a report from the American Heart Association. , 2012, Circulation.
[7] M. Cagy,et al. Environmental factors, familial aggregation and heritability of total cholesterol, low density lipoprotein-cholesterol and high density lipoprotein-cholesterol in a Brazilian population assisted by the Family Doctor Program. , 2011, Public health.
[8] Jonathan C. Cohen,et al. Exome sequencing, ANGPTL3 mutations, and familial combined hypolipidemia. , 2010, The New England journal of medicine.
[9] M. DePristo,et al. The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. , 2010, Genome research.
[10] Tanya M. Teslovich,et al. Biological, Clinical, and Population Relevance of 95 Loci for Blood Lipids , 2010, Nature.
[11] Yun Li,et al. METAL: fast and efficient meta-analysis of genomewide association scans , 2010, Bioinform..
[12] H. Hakonarson,et al. ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data , 2010, Nucleic acids research.
[13] Gonçalo R. Abecasis,et al. The Sequence Alignment/Map format and SAMtools , 2009, Bioinform..
[14] Richard Durbin,et al. Sequence analysis Fast and accurate short read alignment with Burrows – Wheeler transform , 2009 .
[15] Jonathan C. Cohen,et al. PCSK9: a convertase that coordinates LDL catabolism Published, JLR Papers in Press, November 19, 2008. , 2009, Journal of Lipid Research.
[16] I. Rudan,et al. Genome-wide association study of biochemical traits in Korcula Island, Croatia. , 2009, Croatian medical journal.
[17] D. Mozaffarian,et al. Heart disease and stroke statistics--2009 update: a report from the American Heart Association Statistics Committee and Stroke Statistics Subcommittee. , 2009, Circulation.
[18] Alexander Pertsemlidis,et al. Genetic variation in PNPLA3 confers susceptibility to nonalcoholic fatty liver disease , 2008, Nature Genetics.
[19] S. Leal,et al. Methods for detecting associations with rare variants for common diseases: application to analysis of sequence data. , 2008, American journal of human genetics.
[20] R. Hegele,et al. Monogenic pediatric dyslipidemias: classification, genetics and clinical spectrum. , 2008, Molecular genetics and metabolism.
[21] Manuel A. R. Ferreira,et al. PLINK: a tool set for whole-genome association and population-based linkage analyses. , 2007, American journal of human genetics.
[22] V. Gudnason,et al. Age, Gene/Environment Susceptibility-Reykjavik Study: multidisciplinary applied phenomics. , 2007, American journal of epidemiology.
[23] G. Abecasis,et al. Heritability of Cardiovascular and Personality Traits in 6,148 Sardinians , 2006, PLoS genetics.
[24] Jonathan C. Cohen,et al. A spectrum of PCSK9 alleles contributes to plasma levels of low-density lipoprotein cholesterol. , 2006, American journal of human genetics.
[25] Jonathan C. Cohen,et al. Multiple rare variants in NPC1L1 associated with reduced sterol absorption and plasma low-density lipoprotein levels. , 2006, Proceedings of the National Academy of Sciences of the United States of America.
[26] H. Muller. The American Journal of Human Genetics Vol . 2 No . 2 June 1950 Our Load of Mutations 1 , 2006 .
[27] I. Fokkema,et al. LOVD: Easy creation of a locus‐specific sequence variation database using an “LSDB‐in‐a‐box” approach , 2005, Human mutation.
[28] Alexander Pertsemlidis,et al. Low LDL cholesterol in individuals of African descent resulting from frequent nonsense mutations in PCSK9 , 2005, Nature Genetics.
[29] Daniel W. Jones,et al. Toward resolution of cardiovascular health disparities in African Americans: design and methods of the Jackson Heart Study. , 2005, Ethnicity & disease.
[30] A. Hofman,et al. Determinants of disease and disability in the elderly: The Rotterdam elderly study , 1991, European Journal of Epidemiology.
[31] R. Kronmal,et al. Multi-Ethnic Study of Atherosclerosis: objectives and design. , 2002, American journal of epidemiology.
[32] Anand K. Srivastava,et al. Identification of a gene, ABCG5, important in the regulation of dietary cholesterol absorption , 2001, Nature Genetics.
[33] M P Epstein,et al. Improved inference of relationship for pairs of individuals. , 2000, American journal of human genetics.
[34] Thorsten Joachims,et al. Making large-scale support vector machine learning practical , 1999 .
[35] JoAnn E. Manson,et al. Design of the Women's Health Initiative clinical trial and observational study. The Women's Health Initiative Study Group. , 1998, Controlled clinical trials.
[36] D C Rao,et al. NHLBI Family Heart Study: objectives and design. , 1996, American journal of epidemiology.
[37] R. Kronmal,et al. The Cardiovascular Health Study: design and rationale. , 1991, Annals of epidemiology.
[38] Aric Invest. The Atherosclerosis Risk in Communities (ARIC) Study: design and objectives. The ARIC investigators , 1989 .
[39] A. Folsom,et al. The Atherosclerosis Risk in Communities (ARIC) Study: design and objectives. The ARIC investigators. , 1989, American journal of epidemiology.
[40] S B Hulley,et al. CARDIA: study design, recruitment, and some characteristics of the examined subjects. , 1988, Journal of clinical epidemiology.
[41] S. Young,et al. Genetic analysis of a kindred with familial hypobetalipoproteinemia. Evidence for two separate gene defects: one associated with an abnormal apolipoprotein B species, apolipoprotein B-37; and a second associated with low plasma concentrations of apolipoprotein B-100. , 1987, The Journal of clinical investigation.
[42] M. Brown,et al. A receptor-mediated pathway for cholesterol homeostasis. , 1986, Science.
[43] R. Levy,et al. Estimation of the concentration of low-density lipoprotein cholesterol in plasma, without use of the preparative ultracentrifuge. , 1972, Clinical chemistry.
[44] W. Kannel,et al. Factors of risk in the development of coronary heart disease--six year follow-up experience. The Framingham Study. , 1961, Annals of internal medicine.
[45] T. Dawber,et al. Epidemiological approaches to heart disease: the Framingham Study. , 1951, American journal of public health and the nation's health.