PaPI: pseudo amino acid composition to score human protein-coding variants.

Journal: BMC bioinformatics

Published Date: Apr 19, 2015

Abstract

BACKGROUND: High throughput sequencing technologies are able to identify the whole genomic variation of an individual. Gene-targeted and whole-exome experiments are mainly focused on coding sequence variants related to a single or multiple nucleotides. The analysis of the biological significance of this multitude of genomic variant is challenging and computational demanding.

Authors

Ivan Limongelli

IRCCS Policlinico S. Matteo, Pzz.le Volontari del Sangue 2, 27100, Pavia, Italy. ivan.limongelli@unipv.it.
Simone Marini

Department of Electrical, Computer and Biomedical Engineering, University of Pavia, Via Ferrata 1, 27100, Pavia, Italy. simone.marini@unipv.it.
Riccardo Bellazzi

Department of Electrical, Computer and Biomedical Engineering, University of Pavia, Pavia, Italy.

Keywords

Algorithms Amino Acids Artificial Intelligence Exome Genetic Variation Genome, Human High-Throughput Nucleotide Sequencing Humans Proteins Software

External Resources

View on PubMed Access via DOI PubMed (25928477)

PaPI: pseudo amino acid composition to score human protein-coding variants.

Abstract

Authors

Keywords

External Resources

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