Dan Koboldt at MassGenomics explains why exome sequencing often fails to identify causal variants, even in Mendelian disorders — "the very plausible possibility that a noncoding functional variant is responsible."

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NPR reports that with medical data being big business, some companies want to get patients involved.

The Asbury Park Press reports on the startup Genomic Prediction's test to determine an embryo's risk of disease.

In PNAS this week: optical mapping allows glimpse of structural variants, disease-linked GATA2 mutations boosts its protein activity, and more.

Senator Elizabeth Warren (D-Mass.) has released the results of a genetic ancestry analysis, the Boston Globe reports.