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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...
Autores principales: | Tong, Mark Y., Cassa, Christopher A., Kohane, Isaac S. |
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Formato: | Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2011
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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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