Databases of genomic variation and phenotypes: Existing resources and future needs

Human Molecular Genetics

Volumn 22, Issue R1, 2013, Pages

  Johnston, Jennifer J ^a   Biesecker, Leslie G ^a  

^a NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; EXOME; GENE MUTATION; GENETIC RISK; GENETIC VARIABILITY; GENOME; GENOTYPE; HUMAN; PHENOTYPE; PREDICTION; PRIORITY JOURNAL; REFERENCE DATABASE;

DATABASES, GENETIC; GENETIC VARIATION; GENOME, HUMAN; GENOMICS; GENOTYPE; HUMANS; MOLECULAR SEQUENCE ANNOTATION; PHENOTYPE;

EID: 84884759840     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddt384     Document Type: Article

References (7)

1. Abecasis, G.R., Auton, A., Brooks, L.D., DePristo, M.A., Durbin, R.M., Handsaker, R.E., Kang, H.M., Marth, G.T. and McVean, G.A. (2012) An integrated map of genetic variation from 1,092 human genomes. Nature, 491, 56-65.
2. Abecasis, G.R., Altshuler, D., Auton, A., Brooks, L.D., Durbin, R.M., Gibbs, R.A., Hurles, M.E., and McVean, G.A. (2010) A map of human genome variation from population-scale sequencing. Nature, 467, 1061-1073.
3. Sherry, S.T., Ward, M.H., Kholodov, M., Baker, J., Phan, L., Smigielski, E.M., and Sirotkin, K. (2001) dbSNP: the NCBI database of genetic variation. Nucleic Acids Res., 29, 308-311.
4. Stenson, P.D., Mort, M., Ball, E.V., Howells, K., Phillips, A.D., Thomas, N.S., and Cooper, D.N. (2009) The Human Gene Mutation Database: 2008 update. Genome Med., 1, 13.
5. Ng, P.C., and Henikoff, S. (2001) Predicting deleterious amino acid substitutions. Genome Res., 11, 863-874.
6. Li, B., Krishnan, V.G., Mort, M.E., Xin, F., Kamati, K.K., Cooper, D.N., Mooney, S.D., and Radivojac, P. (2009) Automated inference of molecular mechanisms of disease from amino acid substitutions. Bioinformatics, 25, 2744-2750.
7. Fokkema, I.F., Taschner, P.E., Schaafsma, G.C., Celli, J., Laros, J.F., and den Dunnen, J.T. (2011) LOVD v.2.0: the next generation in gene variant databases. Hum. Mutat., 32, 557-563.