Recommendations for locus-specific databases and their curation.


Autoria(s): Cotton, R.G.; Auerbach, A.D.; Beckmann, J.S.; Blumenfeld, O.O.; Brookes, A.J.; Brown, A.F.; Carrera, P.; Cox, D.W.; Gottlieb, B.; Greenblatt, M.S.; Hilbert, P.; Lehvaslaiho, H.; Liang, P.; Marsh, S.; Nebert, D.W.; Povey, S.; Rossetti, S.; Scriver, C.R.; Summar, M.; Tolan, D.R.; Verma, I.C.; Vihinen, M.; den Dunnen, J.T.
Data(s)

2008

Resumo

Expert curation and complete collection of mutations in genes that affect human health is essential for proper genetic healthcare and research. Expert curation is given by the curators of gene-specific mutation databases or locus-specific databases (LSDBs). While there are over 700 such databases, they vary in their content, completeness, time available for curation, and the expertise of the curator. Curation and LSDBs have been discussed, written about, and protocols have been provided for over 10 years, but there have been no formal recommendations for the ideal form of these entities. This work initiates a discussion on this topic to assist future efforts in human genetics. Further discussion is welcome.

Identificador

https://serval.unil.ch/notice/serval:BIB_380D9F5704BD

info:pmid:18157828

https://serval.unil.ch/resource/serval:BIB_380D9F5704BD.P001/REF

http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_380D9F5704BD0

urn:nbn:ch:serval-BIB_380D9F5704BD0

Idioma(s)

eng

Fonte

Human Mutation2912-5

Palavras-Chave #Computational Biology; Databases, Genetic/standards; Databases, Genetic/statistics & numerical data; Expert Testimony; Genes; Genetic Markers; Genetic Variation; Guidelines as Topic; Humans; Mutation
Tipo

info:eu-repo/semantics/review

article

Formato

application/pdf

Direitos

info:eu-repo/semantics/openAccess

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