Article
Performance of mutation pathogenicity prediction tools on missense variants associated with 46,XY differences of sex development.
Clinics (Sao Paulo, Brazil) - 1 Jan 2021
Montenegro Luciana R, Lerário Antônio M, Nishi Miriam Y, Jorge Alexander A L, Mendonca Berenice B
Abstract excerpt
OBJECTIVES: Single nucleotide variants (SNVs) are the most common type of genetic variation among humans. High-throughput sequencing methods have recently characterized millions of SNVs in several thousand individuals from various populations, most of which are benign polymorphisms. Identifying rare disease-causing SNVs remains challenging, and often requires functional in vitro studies. Prioritizing the most...
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