title: An automatic and efficient pipeline for disease gene identification through utilizing family-based sequencing data.
abstract: Due to the generation of enormous amounts of data at both lower costs as well as in shorter times, whole-exome sequencing technologies provide dramatic opportunities for identifying disease genes implicated in Mendelian disorders. Since upwards of thousands genomic variants can be sequenced in each exome, it is challenging to filter pathogenic variants in protein coding regions and reduce the number of missing true variants. Therefore, an automatic and efficient pipeline for finding disease variants in Mendelian disorders is designed by exploiting a combination of variants filtering steps to analyze the family-based exome sequencing approach. Recent studies on the Freeman-Sheldon disease are revisited and show that the proposed method outperforms other existing candidate gene identification methods.
authors.affiliation: Beijing Engineering Research Center of High Volume Language Information Processing and Cloud Computing Applications, Beijing Lab of Intelligent Information Technology, School of Computer Science and Technology, Beijing Institute of Technology, Beijing, China.
authors.forename: Dandan
authors.initials: D
authors.lastname: Song
authors.affiliation: Beijing Engineering Research Center of High Volume Language Information Processing and Cloud Computing Applications, Beijing Lab of Intelligent Information Technology, School of Computer Science and Technology, Beijing Institute of Technology, Beijing, China.
authors.forename: Ning
authors.initials: N
authors.lastname: Li
authors.affiliation: Beijing Engineering Research Center of High Volume Language Information Processing and Cloud Computing Applications, Beijing Lab of Intelligent Information Technology, School of Computer Science and Technology, Beijing Institute of Technology, Beijing, China.
authors.forename: Lejian
authors.initials: L
authors.lastname: Liao
mesh_terms: D000465:Algorithms; D001483:Base Sequence; D002874:Chromosome Mapping / Q000379:methods*; D059472:Exome / Q000235:genetics*; D030342:Genetic Diseases, Inborn / Q000175:diagnosis* / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D059014:High-Throughput Nucleotide Sequencing / Q000379:methods*; D006801:Humans; D008969:Molecular Sequence Data; D010363:Pattern Recognition, Automated / Q000379:methods; D017422:Sequence Analysis, DNA / Q000379:methods
keywords: Mendelian disorders; disease gene identification; whole-exome sequencing