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.

Autor: Spurdle AB; Population Health, QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia., Drackley A; Department of Pathology and Laboratory Medicine, Ann & Robert H. Lurie Children's Hospital of Chicago, IL; Center for Genomics, Ann & Robert H. Lurie Children's Hospital of Chicago, IL; Division of Genetics, Birth Defects and Metabolism, Ann & Robert H. Lurie Children's Hospital of Chicago, IL; Northwestern University Feinberg School of Medicine, Chicago, IL., Ing A; Department of Pathology and Laboratory Medicine, Ann & Robert H. Lurie Children's Hospital of Chicago, IL; Center for Genomics, Ann & Robert H. Lurie Children's Hospital of Chicago, IL; Division of Genetics, Birth Defects and Metabolism, Ann & Robert H. Lurie Children's Hospital of Chicago, IL; Northwestern University Feinberg School of Medicine, Chicago, IL., Tudini E; Population Health, QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia; Australian Genomics, Melbourne, VIC, Australia., Yap KL; Department of Pathology and Laboratory Medicine, Ann & Robert H. Lurie Children's Hospital of Chicago, IL; Center for Genomics, Ann & Robert H. Lurie Children's Hospital of Chicago, IL; Northwestern University Feinberg School of Medicine, Chicago, IL., Tavtigian SV; Department of Oncological Sciences, University of Utah School of Medicine, Salt Lake City, UT; Huntsman Cancer Institute at the University of Utah, Salt Lake City, UT. Electronic address: sean.tavtigian@hci.utah.edu.
Jazyk: angličtina
Zdroj: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2023 Aug; Vol. 25 (8), pp. 100868. Date of Electronic Publication: 2023 Jun 01.
DOI: 10.1016/j.gim.2023.100868
Abstrakt: Competing Interests: Conflict of Interest The authors declare no conflicts of interest.
Databáze: MEDLINE