100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.

ABSTRACT:

Background

The U.K. 100,000 Genomes Project is in the process of investigating the role of genome sequencing in patients with undiagnosed rare diseases after usual care and the alignment of this research with health care implementation in the U.K. National Health Service. Other parts of this project focus on patients with cancer and infection.

Methods

We conducted a pilot study involving 4660 participants from 2183 families, among whom 161 disorders covering a broad spectrum of rare diseases were present. We collected data on clinical features with the use of Human Phenotype Ontology terms, undertook genome sequencing, applied automated variant prioritization on the basis of applied virtual gene panels and phenotypes, and identified novel pathogenic variants through research

SUBMITTER: 100,000 Genomes Project Pilot Investigators 

PROVIDER: S-EPMC7613219 | biostudies-literature | 2021 Nov

REPOSITORIES: biostudies-literature