Work

Correspondence on “Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen)” by Riggs et al

Year: 2023

Type: letter

Source: Genetics in Medicine

DOI: 10.1016/j.gim.2023.100868

Authors: Amanda B. Spurdle, Andrew Drackley, Alexander Ing, Emma Tudini, Kai L. Yap, Sean V. Tavtigian

Institutions: QIMR Berghofer Medical Research Institute, Northwestern University, Lurie Children's Hospital, Australian Genomics Health Alliance, University of Utah, Huntsman Cancer Institute

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: bronze

Funders: Medical Research Council, National Health and Medical Research Council, National Cancer Institute, Division of Cancer Epidemiology and Genetics, National Cancer Institute

Awards: G1912390581, G2025724543, Preparing Australia for Genomic Medicine: A proposal by the Australian Genomics Health Alliance, G3969344748, G6687998774, G831061858, Upgrading rigor and efficiency of germline cancer gene variant classification for the 2020s

OpenAlex ID: W4378953148

Cites: 10

Cited by: 1

Related to: 10