Cargando…

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

PURPOSE: The 2015 American College of Medical Genetics and Genomics–Association for Molecular Pathology (ACMG–AMP) guidelines were a major step toward establishing a common framework for variant classification. In practice, however, several aspects of the guidelines lack specificity, are subject to...

Descripción completa

Detalles Bibliográficos
Autores principales:	Nykamp, Keith, Anderson, Michael, Powers, Martin, Garcia, John, Herrera, Blanca, Ho, Yuan-Yuan, Kobayashi, Yuya, Patil, Nila, Thusberg, Janita, Westbrook, Marjorie, Topper, Scott
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group 2017
Materias:	Original Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5632818/ https://www.ncbi.nlm.nih.gov/pubmed/28492532 http://dx.doi.org/10.1038/gim.2017.37

Ejemplares similares

Correction: Sherloc: a comprehensive refinement of the ACMG–AMP variant classification criteria
por: Nykamp, Keith, et al.
Publicado: (2019)

Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria
por: Savige, Judy, et al.
Publicado: (2021)

Refinement of the assignment to the ACMG/AMP BS3 and PS3 criteria of eight BRCA1 variants of uncertain significance by integrating available functional data with protein interaction assays
por: Caleca, Laura, et al.
Publicado: (2023)

ClinGen Variant Curation Interface: a variant classification platform for the application of evidence criteria from ACMG/AMP guidelines
por: Preston, Christine G., et al.
Publicado: (2022)

Evaluation of in silico algorithms for use with ACMG/AMP clinical variant interpretation guidelines
por: Ghosh, Rajarshi, et al.
Publicado: (2017)

Modeling the ACMG/AMP Variant Classification Guidelines as a Bayesian Classification Framework
por: Tavtigian, Sean V., et al.
Publicado: (2018)

Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss
por: Patel, Mayher J, et al.
Publicado: (2021)

MAGI-ACMG: Algorithm for the Classification of Variants According to ACMG and ACGS Recommendations
por: Cristofoli, Francesca, et al.
Publicado: (2023)

Reevaluating the Mutation Classification in Genetic Studies of Bradycardia Using ACMG/AMP Variant Classification Framework
por: Cheng, Liting, et al.
Publicado: (2020)

Reclassification of Whole Exome Sequencing-derived Genetic Variants in Pendred Syndrome with ACMG/AMP Standards
por: Poon, Kok-Siong, et al.
Publicado: (2021)

A machine learning approach based on ACMG/AMP guidelines for genomic variant classification and prioritization
por: Nicora, Giovanna, et al.
Publicado: (2022)

Minigene‐based splicing analysis and ACMG/AMP‐based tentative classification of 56 ATM variants
por: Bueno‐Martínez, Elena, et al.
Publicado: (2022)

Improving genetic diagnosis by disease-specific, ACMG/AMP variant interpretation guidelines for hearing loss
por: Kim, So Young, et al.
Publicado: (2022)

Pathogenic variant burden in the ExAC database: an empirical approach to evaluating population data for clinical variant interpretation
por: Kobayashi, Yuya, et al.
Publicado: (2017)

Sources of discordance among germ-line variant classifications in ClinVar
por: Yang, Shan, et al.
Publicado: (2017)

Correction: Corrigendum: Sources of discordance among germ-line variant classifications in ClinVar
por: Yang, Shan, et al.
Publicado: (2017)

Clinical implications and considerations for evaluation of in silico algorithms for use with ACMG/AMP clinical variant interpretation guidelines
por: Bean, Lora J. H., et al.
Publicado: (2017)

Alternative splicing and ACMG-AMP-2015-based classification of PALB2 genetic variants: an ENIGMA report
por: Lopez-Perolio, Irene, et al.
Publicado: (2019)

SOD-1 Variants in Amyotrophic Lateral Sclerosis: Systematic Re-Evaluation According to ACMG-AMP Guidelines
por: Ruffo, Paola, et al.
Publicado: (2022)

A Deep Ultraviolet Raman and Fluorescence Spectral Library of 51 Organic Compounds for the SHERLOC Instrument Onboard Mars 2020
por: Razzell Hollis, Joseph, et al.
Publicado: (2023)

A survey assessing adoption of the ACMG-AMP guidelines for interpreting sequence variants and identification of areas for continued improvement
por: Niehaus, Annie, et al.
Publicado: (2019)

A CRISPR and high-content imaging assay compliant with ACMG/AMP guidelines for clinical variant interpretation in ciliopathies
por: Nazlamova, Liliya, et al.
Publicado: (2020)

Comparative Analysis of Different International Criteria (ACMG-AMP vs. TENGEN) Applied to Classification of Missense Germline Allelic Variants in Patients With Multiple Endocrine Neoplasia Type 1 or Suspected to this Syndrome
por: Lugeiro, Palloma C, et al.
Publicado: (2021)

Splicing predictions, minigene analyses, and ACMG‐AMP clinical classification of 42 germline PALB2 splice‐site variants
por: Valenzuela‐Palomo, Alberto, et al.
Publicado: (2021)

Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework
por: Brnich, Sarah E., et al.
Publicado: (2019)

Adapting the ACMG/AMP variant classification framework: A perspective from the ClinGen Hemoglobinopathy Variant Curation Expert Panel
por: Kountouris, Petros, et al.
Publicado: (2021)

A Case Series of Familial ARID1B Variants Illustrating Variable Expression and Suggestions to Update the ACMG Criteria
por: van der Sluijs, Pleuntje J., et al.
Publicado: (2021)

Novel F8 and F9 gene variants from the PedNet hemophilia registry classified according to ACMG/AMP guidelines
por: Andersson, Nadine G., et al.
Publicado: (2020)

APPLICATION OF THE ACMG/AMP FRAMEWORK TO CAPTURE EVIDENCE RELEVANT TO PREDICTED AND OBSERVED IMPACT ON SPLICING: RECOMMENDATIONS FROM THE CLINGEN SVI SPLICING SUBGROUP
por: Walker, Logan C., et al.
Publicado: (2023)

ACMG practice guideline: Genetic evaluation of short stature
por: Seaver, Laurie H., et al.
Publicado: (2009)

Expanding ACMG variant classification guidelines into a general framework
por: Masson, Emmanuelle, et al.
Publicado: (2022)

Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen’s Inherited Cardiomyopathy Expert Panel
por: Kelly, Melissa A, et al.
Publicado: (2018)

Classification of BRCA2 Variants of Uncertain Significance (VUS) Using an ACMG/AMP Model Incorporating a Homology-Directed Repair (HDR) Functional Assay
por: Hu, Chunling, et al.
Publicado: (2022)

vaRHC: an R package for semi-automation of variant classification in hereditary cancer genes according to ACMG/AMP and gene-specific ClinGen guidelines
por: Munté, Elisabet, et al.
Publicado: (2023)

Clinical Genetic Testing for the Cardiomyopathies and Arrhythmias: A Systematic Framework for Establishing Clinical Validity and Addressing Genotypic and Phenotypic Heterogeneity
por: Garcia, John, et al.
Publicado: (2016)

Possible precision medicine implications from genetic testing using combined detection of sequence and intragenic copy number variants in a large cohort with childhood epilepsy
por: Truty, Rebecca, et al.
Publicado: (2019)

Incidental findings and future testing methodologies: potential application of the ACMG 2013 recommendations
por: Richardson, Anastasia
Publicado: (2014)

CAP/ACMG proficiency testing for biochemical genetics laboratories: a summary of performance
Publicado: (2018)

Integrated ACMG-approved genes and ICD codes for the translational research and precision medicine
por: Wable, Raghunandan, et al.
Publicado: (2023)

Inaccuracies and shortcomings in “Adherence of cell-free DNA noninvasive prenatal screens to ACMG recommendations”
por: Johansen Taber, Katherine, et al.
Publicado: (2019)

Cannot write session to /tmp/vufind_sessions/sess_rbvpc87cfjfp5pirscqk8ofm88