Work

P621: Benchmarking phenotype-driven variant prioritization algorithms demonstrates low sensitivity for diagnosing rare Mendelian disorders in pediatric patients

Year: 2024

Type: article

Abstract: Genetic diagnostic testing for rare Mendelian disorders may produce thousands to millions of variants in patient genomes. Identifying one or a few pathogenic and causal variants relevant to their indication of testing is a daunting challenge. A typical genomic diagnostic workflow involves two phases. First, filter for rare variants by comparing against publicly available population genomic databases (eg, gnomAD) to produce a manageable list of variants (typically in hundreds). Second, rank or prioritize variants that may be pathogenic or causal for the patient’s phenotype.

Source: Genetics in Medicine Open

DOI: 10.1016/j.gimo.2024.101527