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Germline Variation in Cancer-Susceptibility Genes in a Healthy, Ancestrally Diverse Cohort: Implications for Individual Genome Sequencing

Technological advances coupled with decreasing costs are bringing whole genome and whole exome sequencing closer to routine clinical use. One of the hurdles to clinical implementation is the high number of variants of unknown significance. For cancer-susceptibility genes, the difficulty in interpret...

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Detalles Bibliográficos
Autores principales: Bodian, Dale L., McCutcheon, Justine N., Kothiyal, Prachi, Huddleston, Kathi C., Iyer, Ramaswamy K., Vockley, Joseph G., Niederhuber, John E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3984285/
https://www.ncbi.nlm.nih.gov/pubmed/24728327
http://dx.doi.org/10.1371/journal.pone.0094554