Article
Identifying disease-causing mutations in genomes of single patients by computational approaches.
Human genetics - 1 Jun 2020
Sevim Bayrak Cigdem, Itan Yuval
Abstract excerpt
Over the last decade next generation sequencing (NGS) has been extensively used to identify new pathogenic mutations and genes causing rare genetic diseases. The efficient analyses of NGS data is not trivial and requires a technically and biologically rigorous pipeline that addresses data quality control, accurate variant filtration to minimize false positives and false negatives, and prioritization of the...
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