Databases in human and medical genetics

Roberta A. Pagon, Ada Hamosh, Johan Den Dunnen, Helen V. Firth, Donna R. Maglott, Stephen T. Sherry, Michael Feolo, David Cooper, Peter Stenson

Research output: Chapter in Book/Report/Conference proceedingChapter

Abstract

This chapter provides an introduction to the major, freely available, Internet-accessible databases in human and medical genetics used by healthcare providers in the diagnosis, management, and genetic counseling of persons with inherited disorders and their families, as well as by researchers for gene discovery, recording allelic variants, and cataloging genotype-phenotype relationships. Databases discussed include: GeneTests (view: www.genetests.org); Online Mendelian Inheritance in Man (view: www.ncbi.nlm.nih.gov/Omim); locus specific databases (LSDBs) identified at the Human Genome Variation Society (HGVS) web site (http://www.HGVS.org/dblist.html); DatabasE of Chromosome Imbalance and Phenotype in Humans using Ensembl Resources (view: http://decipher.sanger.ac.uk); Entrez Gene (view: ncbi.nlm.nih.gov/gene); dbGap: Database of Genotype and Phenotype (view: ncbi.nlm.nih.gov/dbgap); and the Human Gene Mutation Database HGMD ® (view: http://www.hgmd.org).

Original languageEnglish (US)
Title of host publicationVogel and Motulsky's Human Genetics: Problems and Approaches (Fourth Edition)
PublisherSpringer-Verlag Berlin Heidelberg
Pages941-960
Number of pages20
ISBN (Print)9783540376545, 9783540376538
DOIs
StatePublished - 2010

Fingerprint

Medical Genetics
Databases
Genes
Human Genome
Phenotype
Cataloging
Genotype
Genetic Databases
Genetic Counseling
Genetic Association Studies
Chromosomes
Health Personnel
Internet
Genetics
Websites
Research Personnel
Mutation

ASJC Scopus subject areas

  • Medicine(all)
  • Biochemistry, Genetics and Molecular Biology(all)

Cite this

Pagon, R. A., Hamosh, A., Dunnen, J. D., Firth, H. V., Maglott, D. R., Sherry, S. T., ... Stenson, P. (2010). Databases in human and medical genetics. In Vogel and Motulsky's Human Genetics: Problems and Approaches (Fourth Edition) (pp. 941-960). Springer-Verlag Berlin Heidelberg. https://doi.org/10.1007/978-3-540-37654-5_46

Databases in human and medical genetics. / Pagon, Roberta A.; Hamosh, Ada; Dunnen, Johan Den; Firth, Helen V.; Maglott, Donna R.; Sherry, Stephen T.; Feolo, Michael; Cooper, David; Stenson, Peter.

Vogel and Motulsky's Human Genetics: Problems and Approaches (Fourth Edition). Springer-Verlag Berlin Heidelberg, 2010. p. 941-960.

Research output: Chapter in Book/Report/Conference proceedingChapter

Pagon, RA, Hamosh, A, Dunnen, JD, Firth, HV, Maglott, DR, Sherry, ST, Feolo, M, Cooper, D & Stenson, P 2010, Databases in human and medical genetics. in Vogel and Motulsky's Human Genetics: Problems and Approaches (Fourth Edition). Springer-Verlag Berlin Heidelberg, pp. 941-960. https://doi.org/10.1007/978-3-540-37654-5_46
Pagon RA, Hamosh A, Dunnen JD, Firth HV, Maglott DR, Sherry ST et al. Databases in human and medical genetics. In Vogel and Motulsky's Human Genetics: Problems and Approaches (Fourth Edition). Springer-Verlag Berlin Heidelberg. 2010. p. 941-960 https://doi.org/10.1007/978-3-540-37654-5_46
Pagon, Roberta A. ; Hamosh, Ada ; Dunnen, Johan Den ; Firth, Helen V. ; Maglott, Donna R. ; Sherry, Stephen T. ; Feolo, Michael ; Cooper, David ; Stenson, Peter. / Databases in human and medical genetics. Vogel and Motulsky's Human Genetics: Problems and Approaches (Fourth Edition). Springer-Verlag Berlin Heidelberg, 2010. pp. 941-960
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