New test scans all genes simultaneously to identify single mutation causing childs rare genetic disease -- ScienceDaily Our study is the first to show that sequencing a childs genome together with his or her parents dramatically improves geneticists ability to reach a firm diagnosis in rare disorders, said corresponding author Dr. Stan Nelson, vice chair of human genetics and a professor of pathology and laboratory medicine at David Geffen School of Medicine at UCLA. We discovered a genetic cause for the conditions affecting 40 percent of the hundreds of young children who come to UCLA for exome sequencing due to developmental delays or intellectual disabilities.
Posted on: Sun, 19 Oct 2014 05:50:36 +0000
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