Interpretation and reporting of large regions of homozygosity and suspected consanguinity/uniparental disomy, 2021 revision: A technical standard of the American College of Medical Genetics and Genomics (ACMG)

Autor: Patrick R. Gonzales, Erica F. Andersen, Teneille R. Brown, Vanessa L. Horner, Juli Horwitz, Catherine W. Rehder, Natasha L. Rudy, Nathaniel H. Robin, Erik C. Thorland, null on behalf of the ACMG Laboratory Quality Assurance Committee
Rok vydání: 2022
Předmět:
Zdroj: Genetics in Medicine. 24:255-261
ISSN: 1098-3600
DOI: 10.1016/j.gim.2021.10.004
Databáze: OpenAIRE