Article
Interpreting secondary cardiac disease variants in an exome cohort.
Circulation. Cardiovascular genetics - 1 Aug 2013
Ng David, Johnston Jennifer J, Teer Jamie K, Singh Larry N, Peller Lindsey C, Wynter Jamila S, Lewis Katie L, Cooper David N, Stenson Peter D, Mullikin James C, Biesecker Leslie G
Abstract excerpt
BACKGROUND: Massively parallel sequencing to identify rare variants is widely practiced in medical research and in the clinic. Genome and exome sequencing can identify the genetic cause of a disease (primary results), but it can also identify pathogenic variants underlying diseases that are not being sought (secondary or incidental results). A major controversy has developed surrounding the return of secondary...
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