A Look at GATK

Dan Koboldt at MassGenomics says next-gen sequencing has presented some problems for the bioinformatics community in terms of the sheer amount of data being generated. Tools for sequencing data analysis are under demand for efficiency, flexibility, and scalability, he says. A key development in this field was the Sequence Alignment Map, but now, researchers at the Broad Institute have come out with the latest advance — the Genome Analysis Toolkit.

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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.