A group of researchers at Children's Mercy Hospital, led by Stephen Kingsmore, is using the "rapid mode" capabilities of Illumina's HiSeq2500 combined with novel software tools to sequence the genomes of infants entering Children's Mercy Hospital's neonatal intensive care unit, in the hopes of diagnosing rare monogenic diseases that present with serious symptoms early in life.

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In Genome Research this week: multiplex genotyping of germline and somatic short tandem repeats, graph-based regularization, and more.

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