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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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Hlavní autoři: Tong, Mark Y., Cassa, Christopher A., Kohane, Isaac S.
Médium: Artigo
Jazyk:Inglês
Vydáno: Oxford University Press 2011
Témata:
On-line přístup: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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