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Automated validation of genetic variants from large databases: ensuring that variant references refer to the same genomic locations
Summary: Accurate annotations of genomic variants are necessary to achieve full-genome clinical interpretations that are scientifically sound and medically relevant. Many disease associations, especially those reported before the completion of the HGP, are limited in applicability because of potenti...
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| Main Authors: | , , |
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| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
Oxford University Press
2011
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| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3051330/ https://ncbi.nlm.nih.gov/pubmed/21258063 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/bioinformatics/btr029 |
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