Technical laboratory standards for interpretation and reporting
of acquired copy-number abnormalities and copy-neutral loss of heterozygosity in
neoplastic disorders: a joint consensus recommendation from the American College of
Medical Genetics and Genomics (ACMG) and the Cancer Genomics Consortium
(CGC)

Fady M. Mikhail; Jaclyn A. Biegel; Linda D. Cooley; Adrian M. Dubuc; Betsy Hirsch; Vanessa L. Horner; Scott Newman; Lina Shao; Daynna J. Wolff; Gordana Raca

doi:10.1038/s41436-019-0545-7

Technical laboratory standards for interpretation and reporting of acquired copy-number abnormalities and copy-neutral loss of heterozygosity in neoplastic disorders: a joint consensus recommendation from the American College of Medical Genetics and Genomics (ACMG) and the Cancer Genomics Consortium (CGC)

Genetics in Medicine ◽

10.1038/s41436-019-0545-7 ◽

2019 ◽

Vol 21 (9) ◽

pp. 1903-1916 ◽

Cited By ~ 8

Author(s):

Fady M. Mikhail ◽

Jaclyn A. Biegel ◽

Linda D. Cooley ◽

Adrian M. Dubuc ◽

Betsy Hirsch ◽

...

Keyword(s):

Loss Of Heterozygosity ◽

Copy Number ◽

Cancer Genomics ◽

Neutral Loss ◽

Medical Genetics ◽

Consensus Recommendation ◽

Genetics And Genomics ◽

Neoplastic Disorders

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Classifying and Reporting Acquired Copy Number Variants (CNVs) and Copy Neutral Loss of Heterozygosity (CN-LOH) in Neoplastic Disorders: Joint Recommendations From the American College of Medical Genetics and Genomics (ACMG), and the Cancer Genomics Consortium (CGC)

Cancer Genetics ◽

10.1016/j.cancergen.2017.04.016 ◽

2017 ◽

Vol 214-215 ◽

pp. 36-37 ◽

Cited By ~ 1

Author(s):

Gordana Raca ◽

Jaclyn Biegel ◽

Linda Cooley ◽

Adrian Dubuc ◽

Betsy Hirsch ◽

...

Keyword(s):

Loss Of Heterozygosity ◽

Copy Number ◽

Cancer Genomics ◽

Neutral Loss ◽

Copy Number Variants ◽

Medical Genetics ◽

Genetics And Genomics ◽

Neoplastic Disorders

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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)

Genetics in Medicine ◽

10.1038/s41436-019-0686-8 ◽

2019 ◽

Vol 22 (2) ◽

pp. 245-257 ◽

Cited By ~ 63

Author(s):

Erin Rooney Riggs ◽

Erica F. Andersen ◽

Athena M. Cherry ◽

Sibel Kantarci ◽

Hutton Kearney ◽

...

Keyword(s):

Copy Number ◽

Copy Number Variants ◽

Medical Genetics ◽

Consensus Recommendation ◽

Technical Standards ◽

Genetics And Genomics

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27. ACMG/CGC technical laboratory standards for interpretation and reporting of acquired copy number abnormalities (CNAs) and copy-neutral loss of heterozygosity (CN-LOH) in neoplastic disorders

Cancer Genetics ◽

10.1016/j.cancergen.2019.04.033 ◽

2019 ◽

Vol 233-234 ◽

pp. S11

Author(s):

Gordana Raca ◽

Jaclyn Biegel ◽

Linda Cooley ◽

Adrian Dubuc ◽

Betsy Hirsch ◽

...

Keyword(s):

Loss Of Heterozygosity ◽

Copy Number ◽

Neutral Loss ◽

Neoplastic Disorders

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Assessing copy number aberrations and copy-neutral loss-of-heterozygosity across the genome as best practice: An evidence-based review from the Cancer Genomics Consortium (CGC) working group for chronic lymphocytic leukemia

Cancer Genetics ◽

10.1016/j.cancergen.2018.07.004 ◽

2018 ◽

Vol 228-229 ◽

pp. 236-250 ◽

Cited By ~ 6

Author(s):

Kathy Chun ◽

Gail D. Wenger ◽

Alka Chaubey ◽

D.P. Dash ◽

Rashmi Kanagal-Shamanna ◽

...

Keyword(s):

Chronic Lymphocytic Leukemia ◽

Loss Of Heterozygosity ◽

Working Group ◽

Copy Number ◽

Best Practice ◽

Cancer Genomics ◽

Neutral Loss ◽

Lymphocytic Leukemia ◽

Evidence Based ◽

Copy Number Aberrations

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Assessing copy number aberrations and copy neutral loss of heterozygosity across the genome as best practice: An evidence based review of clinical utility from the cancer genomics consortium (CGC) working group for myelodysplastic syndrome, myelodysplastic/myeloproliferative and myeloproliferative neoplasms

Cancer Genetics ◽

10.1016/j.cancergen.2018.07.003 ◽

2018 ◽

Vol 228-229 ◽

pp. 197-217 ◽

Cited By ~ 6

Author(s):

Rashmi Kanagal-Shamanna ◽

Jennelle C. Hodge ◽

Tracy Tucker ◽

Shashi Shetty ◽

Ashwini Yenamandra ◽

...

Keyword(s):

Myelodysplastic Syndrome ◽

Loss Of Heterozygosity ◽

Working Group ◽

Copy Number ◽

Clinical Utility ◽

Best Practice ◽

Cancer Genomics ◽

Myeloproliferative Neoplasms ◽

Neutral Loss ◽

Evidence Based

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Assessing genome-wide copy number aberrations and copy-neutral loss-of-heterozygosity as best practice: An evidence-based review from the Cancer Genomics Consortium working group for plasma cell disorders

Cancer Genetics ◽

10.1016/j.cancergen.2018.07.002 ◽

2018 ◽

Vol 228-229 ◽

pp. 184-196 ◽

Cited By ~ 7

Author(s):

Trevor J. Pugh ◽

James M. Fink ◽

Xinyan Lu ◽

Susan Mathew ◽

Joyce Murata-Collins ◽

...

Keyword(s):

Loss Of Heterozygosity ◽

Plasma Cell ◽

Working Group ◽

Copy Number ◽

Best Practice ◽

Cancer Genomics ◽

Neutral Loss ◽

Evidence Based ◽

Genome Wide ◽

Plasma Cell Disorders

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Correction: 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)

Genetics in Medicine ◽

10.1038/s41436-021-01150-9 ◽

2021 ◽

Author(s):

Erin Rooney Riggs ◽

Erica F. Andersen ◽

Athena M. Cherry ◽

Sibel Kantarci ◽

Hutton Kearney ◽

...

Keyword(s):

Copy Number ◽

Copy Number Variants ◽

Medical Genetics ◽

Consensus Recommendation ◽

Technical Standards ◽

Genetics And Genomics

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Faculty Opinions recommendation of Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.725378375.793543190 ◽

2018 ◽

Author(s):

Cristina Has

Keyword(s):

Molecular Pathology ◽

Medical Genetics ◽

Sequence Variants ◽

Consensus Recommendation ◽

Standards And Guidelines ◽

Genetics And Genomics

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The consequences of uniparental disomy and copy number neutral loss-of-heterozygosity during human development and cancer

Biology of the Cell ◽

10.1042/bc20110013 ◽

2011 ◽

Vol 103 (7) ◽

pp. 303-317 ◽

Cited By ~ 55

Author(s):

Pablo Lapunzina ◽

David Monk

Keyword(s):

Human Development ◽

Loss Of Heterozygosity ◽

Copy Number ◽

Neutral Loss ◽

Uniparental Disomy

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Genomic Copy Number Aberrations and Copy Neutral Loss of Heterozygosity Evaluation in Myeloid Neoplasms: Evidence-Based Recommendations for Clinical Genetic Testing From the Myeloid Malignancies Working Group of the Cancer Genomics Consortium

Cancer Genetics ◽

10.1016/j.cancergen.2017.04.017 ◽

2017 ◽

Vol 214-215 ◽

pp. 37 ◽

Cited By ~ 1

Author(s):

Jennelle C. Hodge ◽

Rashmi Kanagal-Shamanna ◽

Xinjie Xu ◽

Christine Bryke ◽

D.P. Dash ◽

...

Keyword(s):

Genetic Testing ◽

Working Group ◽

Copy Number ◽

Cancer Genomics ◽

Neutral Loss ◽

Evidence Based ◽

Clinical Genetic ◽

Clinical Genetic Testing ◽

Genomic Copy Number ◽

Myeloid Neoplasms

Download Full-text