Finding Pathogenic Variants by Whole Exome Sequencing: Success and FailureGCOE Program Seminar(Global Education Seminar)

Recently, development of next-generation sequencing (NGS) enables us to study wide area of researches in genomes and transcriptomes. Sequencing throughput has increased a few thousand times in latest three years. NGS have been applied to genome biology, agricultural genomics, cancer genomics and rare diseases. Bioinformatics efforts has been given to development of algorithms and software to solve new bioinformatics problems such as genome alignment, variant calling, de novo genome/transcriptome assembly, predicting driver mutations, and so on. Various strategies for analyzing whole exome sequencing data such as personal genomes, rare diseases, and cancer genomes will be described. Sequencing technologies and analysis methods are well described in tens of personal genome papers. Most successful application of whole exome sequencing is to find causative pathogenic variants from rare diseases. Finding and interpreting driver genes from somatic mutations (cancer genomes) requires a greater amount of bioinformatics than before. Strategies for successful application of NGS will be described.