Bioinformatics and computational biology core

Washington University, Saint Louis MO

Investigators

Abstract

Project Summary - Core B: Bioinformatics and Computational Biology Next generation sequencing (NGS) data includes whole exome sequencing (WES), whole genome sequencing (WGS), bulk RNA sequencing (RNA-seq), single cell RNA-seq and SMART-seq approaches that extend to epigenetics and beyond, NGS has revolutionized human disease genomic studies and precision medicine, in particular in the field of inborn errors of immunity (IEI) where correct genetic diagnoses in individual patients can be directly utilized for targeted therapy of patients, A major challenge in NGS data interpretation and analysis is its complexity, scale and the unique expertise required for providing information that is effective for the specific patient and disease model, To allow a highly effective computational workflow of the proposed projects of this application, for this Program we will establish a Bioinformatics and Computational Biology Core that will be fully dedicated for this application, This core will be responsible for extensive annotations and pipelines of the NGS data from each project by diverse biological features, Importantly, the core will add cutting-edge and highly effective annotations that are not currently available in equivalent bioinformatic cores, which includes computational predictions for gain- and loss-of-function pathogenic variants, phenome-wide association studies (PheWAS) results from three independent major biobanks across diverse human populations, phasing genomic and transcriptomic data and appropriately selecting polygenic risk scores (PRS) and quantitative trait loci, In concert with the projects in this Program, this Core of Bioinformatics and Computational Biology will generate an added value of IEI disease-specific machine learning classifications towards the automation of IEI variants, gene prediction, and phenotypic risk at the single patient level, This core will be responsible for expediting and enhancing all projects by supporting processed data storage and transfer, as well as computational biology, bioinformatic and statistical aid and training for the participating groups.