PhD-SNPg: updating a webserver and lightweight tool for scoring nucleotide variants.

Abstract excerpt

One of the primary challenges in human genetics is determining the functional impact of single nucleotide variants (SNVs) and insertion and deletions (InDels), whether coding or noncoding. In the past, methods have been created to detect disease-related single amino acid changes, but only some can assess the influence of noncoding variations. CADD is the most commonly used and advanced algorithm for predicting...

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