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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, 2020-02, Vol.22 (2), p.245-257

2020

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Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion

Human mutation, 2018-11, Vol.39 (11), p.1517-1524

2018

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InterVar: Clinical Interpretation of Genetic Variants by the 2015 ACMG-AMP Guidelines

American journal of human genetics, 2017-02, Vol.100 (2), p.267-280

2017

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ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG)

Genetics in medicine, 2021-08, Vol.23 (8), p.1381-1390

2021

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Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss

Human mutation, 2018-11, Vol.39 (11), p.1593-1613

2018

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Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics

Genetics in medicine, 2017-02, Vol.19 (2), p.249-255

2017

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Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria

Genetics in medicine, 2017-10, Vol.19 (10), p.1105-1117

2017

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Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG)

Genetics in medicine, 2021-11, Vol.23 (11), p.2029-2037

2021

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Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG)

Genetics in medicine, 2021-10, Vol.23 (10), p.1793-1806

2021

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Modeling the ACMG/AMP variant classification guidelines as a Bayesian classification framework

Genetics in medicine, 2018-09, Vol.20 (9), p.1054-1060

2018

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Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework

Genome medicine, 2019-12, Vol.12 (1), p.3-3, Article 3

2019

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ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing

Genetics in medicine, 2013-07, Vol.15 (7), p.565-574

2013

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Evaluation of in silico algorithms for use with ACMG/AMP clinical variant interpretation guidelines

Genome Biology, 2017-11, Vol.18 (1), p.225-225, Article 225

2017

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Fitting a naturally scaled point system to the ACMG/AMP variant classification guidelines

Human mutation, 2020-10, Vol.41 (10), p.1734-1737

2020

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ACMG clinical laboratory standards for next-generation sequencing

Genetics in medicine, 2013-09, Vol.15 (9), p.733-747

2013

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ACMG SF v3.1 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and Genomics (ACMG)

Genetics in medicine, 2022-07, Vol.24 (7), p.1407-1414

2022

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The use of fetal exome sequencing in prenatal diagnosis: a points to consider document of the American College of Medical Genetics and Genomics (ACMG)

Genetics in medicine, 2020-04, Vol.22 (4), p.675-680

2020

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Genetic evaluation of cardiomyopathy: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)

Genetics in medicine, 2018-09, Vol.20 (9), p.899-909

2018

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Middleware 2010: ACM/IFIP/USENIX 11th International Middleware Conference, Bangalore, India, November 29 - December 3, 2010. Proceedings

2010, 2010

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PATHOGENIC VARIANTS WITHIN ACMG SECONDARY FINDINGS GENES IN 24,591 HEALTHY INDIVIDUALS USING CLINICAL EXOME SEQUENCING FOR CARRIER SCREENING

Fertility and sterility, 2020-09, Vol.114 (3), p.e237-e237

2020

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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)

Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion

InterVar: Clinical Interpretation of Genetic Variants by the 2015 ACMG-AMP Guidelines

ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG)

Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss

Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria

Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG)

Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG)

Modeling the ACMG/AMP variant classification guidelines as a Bayesian classification framework

Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium

Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework

Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2021 update: a policy statement of the American College of Medical Genetics and Genomics (ACMG)

ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing

Evaluation of in silico algorithms for use with ACMG/AMP clinical variant interpretation guidelines

Fitting a naturally scaled point system to the ACMG/AMP variant classification guidelines

ACMG clinical laboratory standards for next-generation sequencing

ACMG SF v3.1 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and Genomics (ACMG)

Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen's Inherited Cardiomyopathy Expert Panel

Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline CDH1 sequence variants

The use of fetal exome sequencing in prenatal diagnosis: a points to consider document of the American College of Medical Genetics and Genomics (ACMG)

ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene‐level specification of the ACMG/AMP guidelines for sequence variant interpretation

Genetic evaluation of cardiomyopathy: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)

Middleware 2010: ACM/IFIP/USENIX 11th International Middleware Conference, Bangalore, India, November 29 - December 3, 2010. Proceedings

PATHOGENIC VARIANTS WITHIN ACMG SECONDARY FINDINGS GENES IN 24,591 HEALTHY INDIVIDUALS USING CLINICAL EXOME SEQUENCING FOR CARRIER SCREENING

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