Citation:
Lassmann T, Francis RW, Weeks A, Tang D, Jamieson SE, Broley S,.....Groza T, Kamien B, .......Skoss R, ....... Baynam G, Blakwell JM.. A flexible computational pipeline for research analyses of unsolved clinical exome cases. NPJ Genom Med. 2020;5(1):54.
Abstract:
Exome sequencing has enabled molecular diagnoses for rare disease patients but often with initial diagnostic rates of ~25-30%. Here we develop a robust computational pipeline to rank variants for reassessment of unsolved rare disease patients. A comprehensive web-based patient report is generated in which all deleterious variants can be filtered by gene, variant characteristics, OMIM disease and Phenolyzer scores, and all are annotated with an ACMG classification and links to ClinVar.
A flexible computational pipeline for research analyses of unsolved clinical exome cases
Exome sequencing has enabled molecular diagnoses for rare disease patients but often with initial diagnostic rates of ~25-30%. Here we develop a robust computational pipeline to rank variants for reassessment of unsolved rare disease patients. A comprehensive web-based patient report is generated in which all deleterious variants can be filtered by gene, variant characteristics, OMIM disease and Phenolyzer scores, and all are annotated with an ACMG classification and links to ClinVar.