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ACMG Statements and Guidelines
These online statements and guidelines are definitive and may be cited using the digital object identifier (DOI). These recommendations are designed primarily as an educational resource for medical geneticists and other healthcare providers to help them provide quality medical genetics services; they should not be considered inclusive of all proper procedures and tests or exclusive of other procedures and tests that are reasonably directed to obtaining the same results. Please refer to the leading disclaimer in each document for more information.
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- ACMG StatementOpen Archive
Incidental detection of acquired variants in germline genetic and genomic testing: a points to consider statement of the American College of Medical Genetics and Genomics (ACMG)
Genetics in MedicineVol. 23Issue 7p1179–1184Published in issue: July, 2021- Elizabeth C. Chao
- Caroline Astbury
- Joshua L. Deignan
- Melissa Pronold
- Honey V. Reddi
- Jeffrey N. Weitzel
- and others
Cited in Scopus: 9With recent advances in DNA sequencing technology, it is now possible to begin to appreciate the full scope of DNA variation that arises over the course of an individual’s lifetime.1,2 Our understanding of how the human genome changes over time and in response to external exposures is growing with the improved availability of next-generation sequencing (NGS) based testing, including exome/genome sequencing of large patient cohorts. Clinical laboratories employing NGS-based methodologies can detect many types of DNA sequence variation including those that are present at a reduced variant allele fraction (VAF) (i.e., less than the 50% expected for a heterozygous germline finding). - ACMG Technical StandardOpen Archive
CFTR variant testing: a technical standard of the American College of Medical Genetics and Genomics (ACMG)
Genetics in MedicineVol. 22Issue 8p1288–1295Published in issue: August, 2020- Joshua L. Deignan
- Caroline Astbury
- Garry R. Cutting
- Daniela del Gaudio
- Anthony R. Gregg
- Wayne W. Grody
- and others
Cited in Scopus: 21Pathogenic variants in the CFTR gene are causative of classic cystic fibrosis (CF) as well as some nonclassic CF phenotypes. In 2001, CF became the first target of pan-ethnic universal carrier screening by molecular methods. The American College of Medical Genetics and Genomics (ACMG) recommended a core panel of 23 disease-causing variants as the minimal set to be included in pan-ethnic carrier screening of individuals with no family history of the disease, and these variants were usually assessed using targeted methods.
