title: Recommendations for locus-specific databases and their curation.
abstract: 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.
authors.affiliation: Genomic Disorders Research Centre, St. Vincent's Hospital Melbourne, Australia. cotton@unimelb.edu.au
authors.forename: R G H
authors.initials: RG
authors.lastname: Cotton
authors.forename: A D
authors.initials: AD
authors.lastname: Auerbach
authors.forename: J S
authors.initials: JS
authors.lastname: Beckmann
authors.forename: O O
authors.initials: OO
authors.lastname: Blumenfeld
authors.forename: A J
authors.initials: AJ
authors.lastname: Brookes
authors.forename: A F
authors.initials: AF
authors.lastname: Brown
authors.forename: P
authors.initials: P
authors.lastname: Carrera
authors.forename: D W
authors.initials: DW
authors.lastname: Cox
authors.forename: B
authors.initials: B
authors.lastname: Gottlieb
authors.forename: M S
authors.initials: MS
authors.lastname: Greenblatt
authors.forename: P
authors.initials: P
authors.lastname: Hilbert
authors.forename: H
authors.initials: H
authors.lastname: Lehvaslaiho
authors.forename: P
authors.initials: P
authors.lastname: Liang
authors.forename: S
authors.initials: S
authors.lastname: Marsh
authors.forename: D W
authors.initials: DW
authors.lastname: Nebert
authors.forename: S
authors.initials: S
authors.lastname: Povey
authors.forename: S
authors.initials: S
authors.lastname: Rossetti
authors.forename: C R
authors.initials: CR
authors.lastname: Scriver
authors.forename: M
authors.initials: M
authors.lastname: Summar
authors.forename: D R
authors.initials: DR
authors.lastname: Tolan
authors.forename: I C
authors.initials: IC
authors.lastname: Verma
authors.forename: M
authors.initials: M
authors.lastname: Vihinen
authors.forename: J T
authors.initials: JT
authors.lastname: den Dunnen
mesh_terms: D019295:Computational Biology; D030541:Databases, Genetic / Q000592:standards* / Q000706:statistics & numerical data / Q000639:trends; D005104:Expert Testimony; D005796:Genes; D005819:Genetic Markers; D014644:Genetic Variation; D017408:Guidelines as Topic; D006801:Humans; D009154:Mutation
chemical_list: D005819:Genetic Markers