Sharing Data between LSDBs and Central Repositories

被引：15

作者：

den Dunnen, Johan T. ^{[1
]}

Sijmons, Rolf H. ^{[2
]}

Andersen, Paal S. ^{[3
]}

Vihinen, Mauno ^{[4
,5
]}

Beckmann, Jacques S. ^{[6
,7
]}

Rossetti, Sandro ^{[8
]}

Talbot, C. Conover, Jr. ^{[9
]}

Hardison, Ross C. ^{[10
]}

Povey, Sue ^{[11
]}

Cotton, Richard G. H. ^{[12
]}

机构：

[1] Leiden Univ, Med Ctr, NL-2300 RC Leiden, Netherlands

[2] Univ Groningen, Dept Genet, Univ Med Ctr Groningen, Groningen, Netherlands

[3] Statens Serum Inst, Natl Ctr Antimicrobials & Infect Control, DK-2300 Copenhagen, Denmark

[4] Univ Tampere, Inst Med Technol, FIN-33101 Tampere, Finland

[5] Tampere Univ Hosp, FI-33520 Tampere, Finland

[6] CHUV UNIL, Serv Med Genet, Lausanne, Switzerland

[7] CHUV UNIL, Dept Med Genet, Lausanne, Switzerland

[8] Mayo Clin, Coll Med, Rochester, MN USA

[9] Johns Hopkins Univ, Sch Med, Baltimore, MD USA

[10] Penn State Univ, Huck Inst Life Sci, Ctr Comparat Genom & Bioinformat, University Pk, PA 16802 USA

[11] UCL, Dept Genet Evolut & Environm, London, England

[12] Res Ctr, Melbourne, Vic 3053, Australia

来源：

HUMAN MUTATION | 2009年 / 30卷 / 04期

关键词：

LSDB; database; central database; bioinformatics; informatics; RECOMMENDATIONS; GENES; MUTATIONS; CURATION; PROJECT;

D O I：

10.1002/humu.20977

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Several Locus-Specific DataBases (LSDBs) have recently been approached by larger, more general data repositories (including NCBI and UCSC) with the request to share the DNA variant data they have collected. Within the Human Genome Variation Society (HGVS) a document was generated summarizing the issues related to these requests. The document has been circulated in the HGVS/LSDB community and was discussed extensively. Here we summarize these discussions and present the concluded recommendations for LSDB data sharing with central repositories. Hum Mutat 30, 493-495, 2009. (C) 2009 Wiley-Liss, Inc.

引用

页码：493 / 495

页数：3

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