Variant classification concordance using the ACMG-AMP variant interpretation guidelines across nine genomic implementation research studies
LM Amendola, K Muenzen, LG Biesecker… - The American Journal of …, 2020 - cell.com
… additional laboratories using the ACMG-AMP guidelines. Overall concordance across three
laboratories … exist across laboratories, as well as between laboratories and clinical providers. …
laboratories … exist across laboratories, as well as between laboratories and clinical providers. …
Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework
SE Brnich, AN Abou Tayoun, FJ Couch, GR Cutting… - Genome medicine, 2020 - Springer
… However, they did not provide detailed guidance on how … to variant interpretation discordance
between laboratories. This … benign and known pathogenic variant performance. Similarly, …
between laboratories. This … benign and known pathogenic variant performance. Similarly, …
Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variants
… for 20 ACMG/AMP criteria, while nine were deemed not … with representation on our VCEP,
so that laboratory's assertion in … between biocurators using the original ACMG/AMP and the …
so that laboratory's assertion in … between biocurators using the original ACMG/AMP and the …
Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss
MJ Patel, MT DiStefano, AM Oza, MY Hughes… - Genetics in …, 2021 - nature.com
… of the ACMG/AMP variant rules by the HL VCEP [5, 9], 157 … Sharing of internal clinical
laboratory case data among members of … to strike a balance between efficiency and leveraging the …
laboratory case data among members of … to strike a balance between efficiency and leveraging the …
Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretation
EM McCormick, MT Lott, MC Dulik, L Shen… - Human …, 2020 - Wiley Online Library
… among clinical laboratories, in particular, allowing for increased visibility of rare … Similarly,
the nine base-pair insertion-deletion polymorphism between the MT-CO2 and MT-TK genes is …
the nine base-pair insertion-deletion polymorphism between the MT-CO2 and MT-TK genes is …
[HTML][HTML] Next-generation sequencing for constitutional variants in the clinical laboratory, 2021 revision: a technical standard of the American College of Medical …
…, ACMG Laboratory Quality Assurance Committee - Genetics in …, 2021 - Elsevier
… iterative review and editing between the workgroup and the … Suggestions regarding filtering
relative to variant interpretation … analyzed and classified using the ACMG/AMP standards. …
relative to variant interpretation … analyzed and classified using the ACMG/AMP standards. …
[HTML][HTML] Clinical and laboratory reporting impact of ACMG-AMP and modified ClinGen variant classification frameworks in MYH7-related cardiomyopathy
… changes for nine variants (53%) by ACMG-AMP criteria, of … Differences between original
ACMG-AMP and ClinGen … for use with ACMG/AMP clinical variant interpretation guidelines …
ACMG-AMP and ClinGen … for use with ACMG/AMP clinical variant interpretation guidelines …
An initial survey of the performances of exome variant analysis and clinical reporting among diagnostic laboratories in China
K Zhang, G Lin, D Han, Y Han, J Wang, Y Shen… - Frontiers in …, 2020 - frontiersin.org
… laboratories do not pay enough attention to updates and do not apply them for variant
interpretation … specifications to the ACMG/AMP variant interpretation guidelines for the PAH gene 1 …
interpretation … specifications to the ACMG/AMP variant interpretation guidelines for the PAH gene 1 …
ClinGen Variant Curation Interface: a variant classification platform for the application of evidence criteria from ACMG/AMP guidelines
CG Preston, MW Wright, R Madhavrao, SM Harrison… - Genome medicine, 2022 - Springer
… standards, substantial variability remains among variant curation tools and data sharing by
health care providers, clinical diagnostic laboratories, and … Sequence Variant Interpretation …
health care providers, clinical diagnostic laboratories, and … Sequence Variant Interpretation …
A machine learning approach based on ACMG/AMP guidelines for genomic variant classification and prioritization
… ACMG/AMP guidelines for germline variant interpretation as … In order to identify them,
clinical laboratory geneticists often … evidence to infer variant pathogenicity 9 . Indeed, other …
clinical laboratory geneticists often … evidence to infer variant pathogenicity 9 . Indeed, other …