Sharing data between LSDBs and central repositories
Open Access
- 20 January 2009
- journal article
- research article
- Published by Hindawi Limited in Human Mutation
- Vol. 30 (4), 493-495
- https://doi.org/10.1002/humu.20977
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. Hum Mutat 30, 493–495, 2009.Keywords
This publication has 9 references indexed in Scilit:
- Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test resultsHuman Mutation, 2008
- Genetic interaction between Bardet-Biedl syndrome genes and implications for limb patterningHuman Molecular Genetics, 2008
- Recommendations for locus-specific databases and their curationHuman Mutation, 2007
- A Systematic Genetic Assessment of 1,433 Sequence Variants of Unknown Clinical Significance in the BRCA1 and BRCA2 Breast Cancer–Predisposition GenesAmerican Journal of Human Genetics, 2007
- Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot projectNature, 2007
- PhenCode: connecting ENCODE data with mutations and phenotypeHuman Mutation, 2007
- A survey of locus-specific database curationJournal of Medical Genetics, 2007
- Recommendations of the 2006 Human Variome Project meetingNature Genetics, 2007
- Perspective on Genes and Mutations Causing Retinitis PigmentosaArchives of Ophthalmology (1950), 2007