ClinVar: Public archive of relationships among sequence variation and human phenotype

Nucleic Acids Research

Volumn 42, Issue D1, 2014, Pages

  Landrum, Melissa J ^a   Lee, Jennifer M ^a   Riley, George R ^a   Jang, Wonhee ^a   Rubinstein, Wendy S ^a   Church, Deanna M ^a   Maglott, Donna R ^a  

^a NATIONAL INSTITUTES OF HEALTH   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CLINVAR DATABASE; COMPUTER PROGRAM; FUNDING; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC DATABASE; HUMAN; INTERNET; MOLECULAR LIBRARY; PHENOTYPE; PHENOTYPIC VARIATION; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; STATISTICAL ANALYSIS; ACCESS TO INFORMATION; GENETIC VARIABILITY; INFORMATION PROCESSING; SEQUENCE ANALYSIS; SEQUENCE DATABASE; GENOMICS; HUMAN GENOME;

DATABASES, GENETIC; GENETIC VARIATION; GENOME, HUMAN; GENOMICS; HUMANS; INTERNET; PHENOTYPE;

EID: 84891809093     PISSN: 03051048     EISSN: 13624962     Source Type: Journal    
DOI: 10.1093/nar/gkt1113     Document Type: Article

References (14)

1. NCBI Resource Coordinators. (2013) Database resources of the National Center for Biotechnology Information. Nucleic Acids Res., 41, D8-D20.
2. Lappalainen, I., Lopez, J., Skipper, L., Hefferon, T., Spalding, J.D., Garner, J., Chen, C, Maguire, M., Corbett, M., Zhou, G. et al. (2013) DbVar and DGVa: public archives for genomic structural variation. Nucleic Acids Res., 41, D936-D941.
3. Rubinstein, W.S., Maglott, D.R., Lee, J.M., Kattman, B.L., Malheiro, A.J., Ovetsky, M., Hem, V., Gorelenkov, V., Song, G, Wallin, C et al. (2013) The NIH genetic testing registry: a new, centralized database of genetic tests to enable access to comprehensive information and improve transparency. Nucleic Acids Res., 41, D925-D935.
4. den Dunnen, J.T. and Antonarakis, S.E. (2000) Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion. Hum. Mutation, 15, 7-12.
5. Pruitt, K.D., Brown, GR., Hiatt, S.M., Thibaud-Nissen, F., Astashyn, A., Ermolaeva, O., Farrell, C, Hart, J., Landrum, M.J., McGarvey, K.M. et al. (2014) RefSeq: an update on mammalian reference sequences. Nucleic Acids Res., 42, D756-D763.
6. MacArthur, J.A.L., Morales, J., Tully, R.E., Astashyn, A., Gil, L., Bruford, EA., Dalgleish, R., Larsson, P., Flicek, P., Maglott, D.R. et al. (2014) Locus Reference Genomic: reference sequences for the reporting of clinically relevant sequence. Nucleic Acids Res., 42, D873-D878.
7. 1000 Genomes Project Consortium, Abecasis, GR., Auton, A., Brooks, L.D., DePristo, MA., Durbin, R.M., Handsaker, R.E., Kang, H.M., Marth, GT. and McVean, GA. (2012) An integrated map of genetic variation from 1, 092 human genomes. Nature, 491, 56-65.
8. Lee, S., Emond, M.J., Bamshad, M.J., Barnes, K.C., Rieder, M.J., Nickerson, DA., and NHLBI GO Exome Sequencing Project- ESP Lung Project Team. In Christiani, D.C, Wurfel, M.M. and Lin, X. (2012) Optimal unified approach for rare-variant association testing with application to small-sample case-control whole-exome sequencing studies. Am. J. Hum. Genet., 91, 224-237.
9. Mungall, C.J., Batchelor, C. and Eilbeck, K. (2011) Evolution of the Sequence Ontology terms and relationships. J. Biomed. Inform., 44, 87-93.
10. Robinson, P.N, Kohler, S., Bauer, S., Seelow, D., Horn, D. and Mundlos, S. (2008) The human phenotype ontology: a tool for annotating and analyzing human hereditary disease. Am. J. Hum. Genet., 83, 610-615.
11. NCBI Resource Coordinators. (2014) Database resources of the National Center for Biotechnology Information. Nucleic Acids Res., 42, D7-D17.
12. Richards, C.S., Bale, S., Bellissimo, D.B., Das, S., Grody, W.W., Hegde, M.R., Lyon, E. and Ward, B.E. (2008) Molecular Subcommittee of the ACMG Laboratory Quality Assurance Committee. ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007. Genet Med., 10, 294-300.
13. Amberger, J., Bocchini, C. and Hamosh, A. (2011) A new face and new challenges for Online Mendelian Inheritance in Man (OMIM®). Hum Mutat., 32, 564-567.
14. Green, R.C, Berg, J.S., Grody, W.W., Kalia, S.S., Korf, B.R., Martin, C.L., McGuire, A.L., Nussbaum, R.L., O'Daniel, J.M., Ormond, K.E. et al. (2013) ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. Genet. Med., 15, 565-574.