Cargando…

MAGI-ACMG: Algorithm for the Classification of Variants According to ACMG and ACGS Recommendations

We have developed MAGI-ACMG, a classification algorithm that allows the classification of sequencing variants (single nucleotide or small indels) according to the recommendations of the American College of Medical Genetics (ACMG) and the Association for Clinical Genomic Science (ACGS). The MAGI-ACMG...

Descripción completa

Detalles Bibliográficos
Autores principales:	Cristofoli, Francesca, Daja, Muharrem, Maltese, Paolo Enrico, Guerri, Giulia, Tanzi, Benedetta, Miotto, Roberta, Bonetti, Gabriele, Miertus, Jan, Chiurazzi, Pietro, Stuppia, Liborio, Gatta, Valentina, Cecchin, Stefano, Bertelli, Matteo, Marceddu, Giuseppe
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2023
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10454715/ https://www.ncbi.nlm.nih.gov/pubmed/37628650 http://dx.doi.org/10.3390/genes14081600

Ejemplares similares

Variant Selection and Interpretation: An Example of Modified VarSome Classifier of ACMG Guidelines in the Diagnostic Setting
por: Cristofoli, Francesca, et al.
Publicado: (2021)

appMAGI: A complete laboratory information management system for clinical diagnostics
por: Marceddu, Giuseppe, et al.
Publicado: (2020)

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

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)

Sherloc: a comprehensive refinement of the ACMG–AMP variant classification criteria
por: Nykamp, Keith, et al.
Publicado: (2017)

APP, PSEN1, and PSEN2 Variants in Alzheimer’s Disease: Systematic Re-evaluation According to ACMG Guidelines
por: Xiao, Xuewen, et al.
Publicado: (2021)

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

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

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

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

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

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)

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

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

Adaptation of ACMG-ClinGen Technical Standards for Copy Number Variant Interpretation Concordance
por: Zhang, Kuo, et al.
Publicado: (2022)

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)

High-Throughput Genetic Testing in ALS: The Challenging Path of Variant Classification Considering the ACMG Guidelines
por: Lattante, Serena, et al.
Publicado: (2020)

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

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

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)

GenOtoScope: Towards automating ACMG classification of variants associated with congenital hearing loss
por: Melidis, Damianos P., 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)

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)

A commentary on Actionable secondary findings in the 73 ACMG-recommended genes in 1,559 Thai exomes
por: Johnston, Jennifer J., et al.
Publicado: (2022)

Landscape of Secondary Findings in Chinese Population: A Practice of ACMG SF v3.0 List
por: Huang, Yingzhao, et al.
Publicado: (2022)

Utility of ACMG classification to support interpretation of molecular genetic test results in patients with factor VII deficiency
por: Alesci, Rosa Sonja, et al.
Publicado: (2023)

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)

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)

Genetic analysis of intellectual disability and autism
por: Chiurazzi, Pietro, et al.
Publicado: (2020)

Comprehensive genetic testing of Chinese SNHL patients and variants interpretation using ACMG guidelines and ethnically matched normal controls
por: Yuan, Yongyi, et al.
Publicado: (2019)

AutoCNV: a semiautomatic CNV interpretation system based on the 2019 ACMG/ClinGen Technical Standards for CNVs
por: Fan, Chunna, 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)

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

Return of non-ACMG recommended incidental genetic findings to pediatric patients: considerations and opportunities from experiences in genomic sequencing
por: Bowling, Kevin M., et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_avg7qj5h2lmi5uelrhkr5bd8k4