Article
VarMod: modelling the functional effects of non-synonymous variants.
Nucleic acids research - 1 Jul 2014
Pappalardo Morena, Wass Mark N
Abstract excerpt
Unravelling the genotype-phenotype relationship in humans remains a challenging task in genomics studies. Recent advances in sequencing technologies mean there are now thousands of sequenced human genomes, revealing millions of single nucleotide variants (SNVs). For non-synonymous SNVs present in proteins the difficulties of the problem lie in first identifying those nsSNVs that result in a functional change in...
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