Sharing data between LSDBs and central repositories
- PMID: 19306393
- PMCID: PMC4409810
- DOI: 10.1002/humu.20977
Sharing data between LSDBs and central repositories
Abstract
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.
(c) 2009 Wiley-Liss, Inc.
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