title: In silico analysis of the exome for gene discovery.
abstract: Here we describe a bioinformatic strategy for extracting and analyzing the list of variants revealed from an exome sequencing project to identify potential disease genes. This in silico method filters out the majority of common SNPs and extracts a list of potential candidate protein-coding and non-coding RNA (ncRNA) genes. The workflow employs Galaxy, a publically available Web-based software, to filter and sort sequence variants identified by capture-based target enrichment and sequencing from exomes including selected ncRNAs.
authors.affiliation: Department of Molecular and Clinical Genetics, Royal Prince Alfred Hospital, The University of Sydney, Camperdown, NSW, Australia. mhin9872@uni.sydney.edu.au
authors.forename: Marcus
authors.initials: M
authors.lastname: Hinchcliffe
authors.forename: Paul
authors.initials: P
authors.lastname: Webster
mesh_terms: D019295:Computational Biology; D003198:Computer Simulation; D005091:Exons / Q000235:genetics*; D056726:Genetic Association Studies / Q000379:methods*; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D008957:Models, Genetic; D020641:Polymorphism, Single Nucleotide