Genetic variant representation, annotation and prioritization in the post-GWAS era

Cell Research

Volumn 22, Issue 10, 2012, Pages 1505-1508

  Li, Mulin Jun ^a,b   Sham, Pak Chung ^a,c   Wang, Junwen ^a,b  

^a UNIVERSITY OF HONG KONG   (Hong Kong)

^b UNIVERSITY OF HONG KONG   (China)

^c UNIVERSITY OF HONG KONG   (Hong Kong)

Author keywords

[No Author keywords available]

Indexed keywords

BIOLOGY; DNA SEQUENCE; GENE LOCUS; GENETIC ASSOCIATION; HUMAN; LETTER; SINGLE NUCLEOTIDE POLYMORPHISM;

COMPUTATIONAL BIOLOGY; GENETIC LOCI; GENOME-WIDE ASSOCIATION STUDY; HUMANS; POLYMORPHISM, SINGLE NUCLEOTIDE; SEQUENCE ANALYSIS, DNA;

EID: 84867042205     PISSN: 10010602     EISSN: 17487838     Source Type: Journal    
DOI: 10.1038/cr.2012.106     Document Type: Letter

References (14)

1. Klein RJ, Zeiss C, Chew EY, et al. Complement factor H polymorphism in age-related macular degeneration. Science 2005; 308:385-389. (Pubitemid 40530070)
2. Hindorff LA, Sethupathy P, Junkins HA, et al. Potential etiologic and functional implications of genome-wide association loci for human diseases and traits. Proc Natl Acad Sci USA 2009; 106:9362-9367.
3. Bamshad MJ, Ng SB, Bigham AW, et al. Exome sequencing as a tool for Mendelian disease gene discovery. Nat Rev Genet 2011; 12:745-755.
4. Wang K, Li M, Hakonarson H. Analysing biological pathways in genome-wide association studies. Nat Rev Genet 2010; 11:843-854.
5. Robinson JT, Thorvaldsdottir H, Winckler W, et al. Integrative genomics viewer. Nat Biotechnol 2011; 29:24-26.
6. Pruim RJ, Welch RP, Sanna S, et al. LocusZoom: regional visualization of genome-wide association scan results. Bioinformatics 2010; 26:2336-2337.
7. Wang J. A database of genetic variants in microRNA genes and their putative functional roles in gene regulation. Hum Mutat 2012; 33:vii-vii.
8. Wang W, Wei Z, Lam TW, Wang JW. Next generation sequencing has lower sequence coverage and poorer SNP-detection capability in the regulatory regions. Sci Rep 2011; 1:55.
9. Wei Z, Jensen ST. GAME: detecting cis-regulatory elements using a genetic algorithm. Bioinformatics 2006; 22:1577-1584. (Pubitemid 43985290)
10. Hu X, Liu Q, Zhang Z, et al. SHEsisEpi, a GPU-enhanced genome-wide SNP-SNP interaction scanning algorithm, efficiently reveals the risk genetic epistasis in bipolar disorder. Cell Res 2010; 20:854-857.
11. Wang K, Li M, Hakonarson H. ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Res 2010; 38:e164
12. Yandell M, Huff C, Hu H, et al. A probabilistic disease-gene finder for personal genomes. Genome Res 2011; 21:1529-1542.
13. Krzywinski M, Schein J, Birol I, et al. Circos: an information aesthetic for comparative genomics. Genome Res 2009; 19:1639-1645.
14. Li MJ, Wang P, Liu X, et al. GWASdb: a database for human genetic variants identified by genome-wide association studies. Nucleic Acids Res 2012; 40 (Database issue):D1047-D1054.