TY - CHAP
T1 - A broad overview of computational methods for predicting the pathophysiological effects of non-synonymous variants
AU - Castellana, Stefano
AU - Fusilli, Caterina
AU - Mazza, Tommaso
PY - 2016/8/1
Y1 - 2016/8/1
N2 - Next-generation sequencing has provided extraordinary opportunities to investigate the massive human genetic variability. It helped identifying several kinds of genomic mismatches from the wild-type reference genome sequences and to explain the onset of several pathogenic phenotypes and diseases susceptibility. In this context, distinguishing pathogenic from functionally neutral amino acid changes turns out to be a task as useful as complex, expensive, and time-consuming. Here, we present an exhaustive and up-to-dated survey of the algorithms and software packages conceived for the estimation of the putative pathogenicity of mutations, along with a description of the most popular mutation datasets that these tools used as training sets. Finally, we present and describe software for the prediction of cancer-related mutations.
AB - Next-generation sequencing has provided extraordinary opportunities to investigate the massive human genetic variability. It helped identifying several kinds of genomic mismatches from the wild-type reference genome sequences and to explain the onset of several pathogenic phenotypes and diseases susceptibility. In this context, distinguishing pathogenic from functionally neutral amino acid changes turns out to be a task as useful as complex, expensive, and time-consuming. Here, we present an exhaustive and up-to-dated survey of the algorithms and software packages conceived for the estimation of the putative pathogenicity of mutations, along with a description of the most popular mutation datasets that these tools used as training sets. Finally, we present and describe software for the prediction of cancer-related mutations.
KW - Genomic mutations
KW - Next-generation sequencing
KW - Pathogenicity prediction
KW - Whole exome sequencing
UR - http://www.scopus.com/inward/record.url?scp=84984973166&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84984973166&partnerID=8YFLogxK
U2 - 10.1007/978-1-4939-3572-7_22
DO - 10.1007/978-1-4939-3572-7_22
M3 - Chapter
AN - SCOPUS:84984973166
VL - 1415
T3 - Methods in Molecular Biology
SP - 423
EP - 440
BT - Methods in Molecular Biology
PB - Humana Press Inc.
ER -