Work

Prioritizing the detection of rare pathogenic variants in population screening

Year: 2023

Type: article

Source: Nature Reviews Genetics

DOI: 10.1038/s41576-022-00571-9

Authors: Paul Lacaze, Ranjit Manchanda, Robert C. Green

Institutions: Monash University, St Bartholomew's Hospital, Queen Mary University of London, Cancer Research UK, London School of Hygiene & Tropical Medicine, Broad Institute, Harvard University, Ariadne Labs, Mass General Brigham

Language: English

Topic: Genomics and Rare Diseases

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: green

Funders: Barts Charity, National Institute for Health and Care Research

Awards: G535437275, G848625396

OpenAlex ID: W4316036221

FWCI: 2.658

Cites: 10

Cited by: 16

Related to: 10