Genetic diagnosis of Mendelian disorders via RNA sequencing
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DOI: 10.1038/ncomms15824
Abstract: Across a variety of Mendelian disorders, ∼50–75% of patients do not receive a genetic diagnosis by exome sequencing indicating disease-causing variants in non-coding regions. Although genome sequencing in principle reveals all genetic variants, their sizeable… read more here.
Keywords: mendelian disorders; genetic diagnosis; disorders via; diagnosis mendelian ... See more keywords