Article
Predicting the functional effect of amino acid substitutions and indels.
PloS one - 1 Jan 2012
Choi Yongwook, Sims Gregory E, Murphy Sean, Miller Jason R, Chan Agnes P
Abstract excerpt
As next-generation sequencing projects generate massive genome-wide sequence variation data, bioinformatics tools are being developed to provide computational predictions on the functional effects of sequence variations and narrow down the search of casual variants for disease phenotypes. Different classes of sequence variations at the nucleotide level are involved in human diseases, including substitutions,...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
