Genomics Solves a Mystery

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Until the mid-20th century, pentosuria — a benign condition identified by the presence of five carbon sugars in a person's urine — was often misdiagnosed as diabetes, causing many people to needlessly take insulin. A study published in PNAS in October by the University of Washington's Mary-Claire King, Arno Motulsky, Sarah Pierce, and their collaborators describes two mutations in DCXR that cause pentosuria. Genome Technology's Christie Rizk spoke with King about the study. What follows is an excerpt of their conversation, edited for space.

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Sep
27
Sponsored by
Philips Genomics

This webinar will present an in-depth look at how Memorial Sloan Kettering Cancer Center has developed and implemented a next-generation sequencing panel for mutational tumor profiling of advanced cancer patients.

Sep
28
Sponsored by
Fabric Genomics

This webinar will discuss the critical role that software can play for clinical labs looking to establish comprehensive genomic testing programs.