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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Detalles Bibliográficos
Autores principales: Tong, Mark Y., Cassa, Christopher A., Kohane, Isaac S.
Formato: Texto
Lenguaje:English
Publicado: Oxford University Press 2011
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3051330/
https://www.ncbi.nlm.nih.gov/pubmed/21258063
http://dx.doi.org/10.1093/bioinformatics/btr029

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