Article
Systematic reanalysis of genomic data improves quality of variant interpretation.
Clinical genetics - 1 Jul 2018
Hiatt S M, Amaral M D, Bowling K M, Finnila C R, Thompson M L, Gray D E, Lawlor J M J, Cochran J N, Bebin E M, Brothers K B, East K M, Kelley W V, Lamb N E, Levy S E, Lose E J, Neu M B, Rich C A, Simmons S, Myers R M, Barsh G S, Cooper G M
Abstract excerpt
As genomic sequencing expands, so does our knowledge of the link between genetic variation and disease. Deeper catalogs of variant frequencies improve identification of benign variants, while sequencing affected individuals reveals disease-associated variation. Accumulation of human genetic data thus makes reanalysis a means to maximize the benefits of clinical sequencing. We implemented pipelines to...
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