Article
ClinPred: Prediction Tool to Identify Disease-Relevant Nonsynonymous Single-Nucleotide Variants.
American journal of human genetics - 4 Oct 2018
Alirezaie Najmeh, Kernohan Kristin D, Hartley Taila, Majewski Jacek, Hocking Toby Dylan
Abstract excerpt
Advances in high-throughput DNA sequencing have revolutionized the discovery of variants in the human genome; however, interpreting the phenotypic effects of those variants is still a challenge. While several computational approaches to predict variant impact are available, their accuracy is limited and further improvement is needed. Here, we introduce ClinPred, an efficient tool for identifying disease-relevant...
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