BCBB Clinical Genomics Analysis Team - Methods and projects

Authors

• AJ Oler
• E Karlins
• C McNinch
• Z Fazal
• J Berghout
• B Isaac

Abstract

The Clinical Genomics Analysis team of the Bioinformatics and Computational Biosciences Branch (BCBB) was created to provide a free scientific support resource of genetics and computational expertise for NIAID intramural research community. We collaborate on analyzing patient-related genetic and transcriptomic data to aid in clinical research projects for the (1) diagnosis of known disease, (2) discovery of novel genetic disorders and disease mechanisms, and (3) characterization of affected cohorts. The scientific support team regularly imports and evaluates new workflows to meet the needs of new projects and provides both formal and informal training in bioinformatics resources and subject matter. This poster showcases active research projects in somatic variant calling (Mutect2, LoFreq2), short tandem repeat genotyping (ExpansionHunter), a suite of variant prioritization pipelines (GEMINI, which incorporates multiple algorithms and Exomiser which combines genotype and phenotype), genotype-first enrichment analysis in the UK Biobank, and a workflow to detect rare outlier gene expression and aberrant splicing (OUTRIDER, FRASER2). Researchers interested in consultation or collaboration are encouraged to reach out https://niaid-amp.powerappsportals.us or by emailing bioinformatics@niaid.nih.gov.

Scientific Focus Area: Genetics and Genomics

This page was last updated on Tuesday, August 6, 2024