Predicting mendelian disease-causing non-synonymous single nucleotide variants in exome sequencing studies.

Abstract excerpt

Exome sequencing is becoming a standard tool for mapping Mendelian disease-causing (or pathogenic) non-synonymous single nucleotide variants (nsSNVs). Minor allele frequency (MAF) filtering approach and functional prediction methods are commonly used to identify candidate pathogenic mutations in these studies. Combining multiple functional prediction methods may increase accuracy in prediction. Here, we propose...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Amino Acid Substitution
• Share to Consanguinity