Incidental detection of acquired variants in germline genetic and genomic testing: a points to consider statement of the American College of Medical Genetics and …
EC Chao, C Astbury, JL Deignan, M Pronold… - Genetics in …, 2021 - nature.com
METHODS This points to consider statement was informed by a review of the literature and
current guidelines. Resources consulted included PubMed and relevant American College of …
current guidelines. Resources consulted included PubMed and relevant American College of …
[HTML][HTML] … in cancer: a joint consensus recommendation of the Association for Molecular Pathology, American Society of Clinical Oncology, and College of American …
… American College of Medical Genetics and Genomics (ACMG), American Society of Clinical
Oncology, and College of … kinase pathway, resulting in acquired resistance to BRAF inhibitor …
Oncology, and College of … kinase pathway, resulting in acquired resistance to BRAF inhibitor …
[HTML][HTML] Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and …
… , reproducibility, and robustness data that assess the analytical performance of the assay
and account for specimen integrity, which can be affected by the method and time of acquisition…
and account for specimen integrity, which can be affected by the method and time of acquisition…
[HTML][HTML] American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants
…, F Quintero-Rivera, ST South, AWG of the American - Genetics in …, 2011 - Elsevier
… A copy number variant (CNV) is defined as a segment of … microarray results, the American
College of Medical Genetics (… These guidelines do not apply to CNVs representing acquired …
College of Medical Genetics (… These guidelines do not apply to CNVs representing acquired …
[HTML][HTML] Points to consider in the detection of germline structural variants using next-generation sequencing: A statement of the American College of Medical Genetics …
G Raca, C Astbury, A Behlmann, MJ De Castro… - Genetics in …, 2023 - Elsevier
… variants. … the American College of Medical Genetics and Genomics (ACMG) and the Cancer
Genomics Consortium (CGC). In the following sections, we first describe the types of variants …
Genomics Consortium (CGC). In the following sections, we first describe the types of variants …
[HTML][HTML] Assessments of somatic variant classification using the Association for Molecular Pathology/American Society of Clinical Oncology/College of American …
MM Li, CE Cottrell, M Pullambhatla, S Roy… - The Journal of Molecular …, 2023 - Elsevier
… of acquired somatic and germline genetic variants in the … relevance of a variant (eg,
distinguishing a driver variant that is … of American Pathologists (CAP), and American College of …
distinguishing a driver variant that is … of American Pathologists (CAP), and American College of …
[HTML][HTML] … of the criteria of American College of Medical Genetics and Genomics/Association for Molecular Pathology in prediction of pathogenicity of genetic variants …
JK Ponińska, ZT Bilińska, G Truszkowska… - Journal of Translational …, 2022 - Springer
… tested in the routine clinical setting for variants in 30 genes associated with TAAD or 174 …
the performance of variant classification based on recommendations of American College of …
the performance of variant classification based on recommendations of American College of …
[HTML][HTML] … for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics …
ER Riggs, EF Andersen, AM Cherry, S Kantarci… - 2020 - Elsevier
… To assist clinical laboratories in the classification and reporting of CNVs, irrespective of the
technology used to identify them, the American College of Medical Genetics and Genomics …
technology used to identify them, the American College of Medical Genetics and Genomics …
[HTML][HTML] … agreement of variant classification based on the 2017 Association for Molecular Pathology, American Society of Clinical Oncology, and College of American …
D Sirohi, RL Schmidt, DL Aisner, A Behdad… - The Journal of Molecular …, 2020 - Elsevier
… for variant classification in solid tumors when using the 2017 Association for Molecular
Pathology/American Society of Clinical Oncology/College of American … the American College of …
Pathology/American Society of Clinical Oncology/College of American … the American College of …
… Acquired Copy Number Variants (CNVs) and Copy Neutral Loss of Heterozygosity (CN-LOH) in Neoplastic Disorders: Joint Recommendations From the American …
G Raca, J Biegel, L Cooley, A Dubuc… - Cancer …, 2017 - cancergeneticsjournal.org
… transparency in the interpretation of acquired CNVs and CN-… variants detected by CMA
clinical testing. The resulting framework will include a process for classifying acquired variants …
clinical testing. The resulting framework will include a process for classifying acquired variants …
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