Testing for rare variant associations in complex diseases

Genome Medicine

Volumn 3, Issue 4, 2011, Pages

  Asimit, Jennifer ^a   Zeggini, Eleftheria ^a  

^a WELLCOME TRUST SANGER INSTITUTE   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

HIGH DENSITY LIPOPROTEIN CHOLESTEROL;

ALLELE; COMPLEX DISEASE; EFFECT SIZE; ENVIRONMENTAL FACTOR; GENE FREQUENCY; GENE SEQUENCE; GENE TECHNOLOGY; GENETIC ASSOCIATION; GENETIC LINKAGE; GENETIC TRAIT; GENETIC VARIABILITY; GENOME ANALYSIS; GENOTYPE ENVIRONMENT INTERACTION; HUMAN; INSULIN DEPENDENT DIABETES MELLITUS; MULTIFACTORIAL INHERITANCE; NEXT GENERATION SEQUENCING; NOTE; PATHOGENESIS; PRIORITY JOURNAL; RARE DISEASE; RARE VARIANT; REPLICATION BASED STRATEGY; RISK ASSESSMENT; STATISTICAL ANALYSIS;

EID: 84857039000     PISSN: None     EISSN: 1756994X     Source Type: Journal    
DOI: 10.1186/gm238     Document Type: Note

References (7)

1. 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. 10.1126/science.1099870, 15297675.
2. Nejentsev S, Walker N, Riches D, Egholm M, Todd JA. Rare variants of IFIH1, a gene implicated in antiviral responses, protect against type 1 diabetes. Science 2009, 324:387-389. 10.1126/science.1167728, 2707798, 19264985.
3. 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. 10.1016/j.ajhg.2008.06.024, 2842185, 18691683.
4. Bodmer W, Bonillna C. Common and rare variants in multifactorial susceptibility to common diseases. Nat Genet 2008, 40:695-701. 10.1038/ng.f.136, 2527050, 18509313.
5. Asimit J, Zeggini E. Rare variant association analysis methods for complex traits. Annu Rev Genet 2010, 44:293-308. 10.1146/annurev-genet-102209-163421, 21047260.
6. Ionita-Laza I, Buxbaum JD, Laird NM, Lange C. A new testing strategy to identify rare variants with either risk or protective effect on disease. PLoS Genet 2011, 7:e1001289. 10.1371/journal.pgen.1001289, 21304886.
7. Browning SR, Browning BL. Rapid and accurate haplotype phasing and missing-data inference for whole-genome association studies by use of localized haplotype clustering. Am J Hum Genet 2007, 81:1084-1097. 10.1086/521987, 2265661, 17924348.