Article
A systematic approach to assessing the clinical significance of genetic variants.
Clinical genetics - 1 Nov 2013
Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly M A, Pugh T J, Funke B H, Rehm H L, Lebo M S
Abstract excerpt
Molecular genetic testing informs diagnosis, prognosis, and risk assessment for patients and their family members. Recent advances in low-cost, high-throughput DNA sequencing and computing technologies have enabled the rapid expansion of genetic test content, resulting in dramatically increased numbers of DNA variants identified per test. To address this challenge, our laboratory has developed a systematic...
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