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Researchers involved with the NIH Undiagnosed Diseases Program are using an exome sequence analysis approach that they call "extreme novel filtering" to find disease-associated mutations behind conditions represented by just one or a few patients, one of the researchers said at the ACMG meeting. The team is putting together a pipeline for analyzing around 150 more exomes from families enrolled in the UDP to identify authentic disease-causing alterations.
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Genome Research is an international, continuously published, peer-reviewed journal that features outstanding original research providing novel insights into the genome biology of all organisms, including significant advances in genomic medicine.
Genome Research
