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

doi:10.1007/978-3-540-37654-5_46

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

School of Medicine

Research output: Chapter in Book/Report/Conference proceeding › Chapter

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 language	English (US)
Title of host publication	Vogel and Motulsky's Human Genetics
Subtitle of host publication	Problems and Approaches (Fourth Edition)
Publisher	Springer-Verlag Berlin Heidelberg
Pages	941-960
Number of pages	20
ISBN (Electronic)	9783540376545
ISBN (Print)	9783540376538
DOIs	https://doi.org/10.1007/978-3-540-37654-5_46
State	Published - Jan 1 2010

ASJC Scopus subject areas

General Medicine
General Biochemistry, Genetics and Molecular Biology

Access to Document

10.1007/978-3-540-37654-5_46

Cite this

@inbook{0749cfd96f62497fa4a2d8bc760dc9df,

title = "Databases in human and medical genetics",

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 {\textregistered} (view: http://www.hgmd.org).",

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

year = "2010",

month = jan,

day = "1",

doi = "10.1007/978-3-540-37654-5_46",

language = "English (US)",

isbn = "9783540376538",

pages = "941--960",

booktitle = "Vogel and Motulsky's Human Genetics",

publisher = "Springer-Verlag Berlin Heidelberg",

}

TY - CHAP

T1 - Databases in human and medical genetics

AU - Pagon, Roberta A.

AU - Hamosh, Ada

AU - Dunnen, Johan Den

AU - Firth, Helen V.

AU - Maglott, Donna R.

AU - Sherry, Stephen T.

AU - Feolo, Michael

AU - Cooper, David

AU - Stenson, Peter

PY - 2010/1/1

Y1 - 2010/1/1

N2 - 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).

AB - 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).

UR - http://www.scopus.com/inward/record.url?scp=84920503562&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84920503562&partnerID=8YFLogxK

U2 - 10.1007/978-3-540-37654-5_46

DO - 10.1007/978-3-540-37654-5_46

M3 - Chapter

AN - SCOPUS:84920503562

SN - 9783540376538

SP - 941

EP - 960

BT - Vogel and Motulsky's Human Genetics

PB - Springer-Verlag Berlin Heidelberg

ER -

Databases in human and medical genetics

Abstract

ASJC Scopus subject areas

Access to Document

Other files and links

Fingerprint

Cite this