Article
Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.
PloS one - 1 Jan 2014
Bodian Dale L, McCutcheon Justine N, Kothiyal Prachi, Huddleston Kathi C, Iyer Ramaswamy K, Vockley Joseph G, Niederhuber John E
Abstract excerpt
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 interpreting the clinical relevance of the genomic variants is compounded by the fact that most of what is known about these...
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