(Q34465792)

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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

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scholarly article

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Europe PubMed Central

PubMed publication ID

2 August 2017

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 (English)

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Europe PubMed Central

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2 August 2017

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medical genetics

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Heidi L Rehm

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Julie Gastier-Foster

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Julie Gastier-Foster

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2 August 2017

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Sue Richards

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2 August 2017

Nazneen Aziz

2

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2 August 2017

Sherri Bale

3

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2 August 2017

David Bick

4

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2 August 2017

Soma Das

5

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2 August 2017

Wayne W Grody

7

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Europe PubMed Central

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2 August 2017

Madhuri Hegde

8

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2 August 2017

Elaine Lyon

9

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2 August 2017

Elaine Spector

10

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2 August 2017

Karl Voelkerding

11

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2 August 2017

ACMG Laboratory Quality Assurance Committee

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2 August 2017

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5 March 2015

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2 August 2017

1 May 2015

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30 June 2019

22 July 2019

14 September 2019

19 September 2019

19 November 2020

Genetics in Medicine

6 references

Europe PubMed Central

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2 August 2017

30 June 2019

22 July 2019

14 September 2019

19 September 2019

19 November 2020

17

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Europe PubMed Central

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2 August 2017

5

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Europe PubMed Central

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2 August 2017

405-424

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Europe PubMed Central

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2 August 2017

Guidelines for investigating causality of sequence variants in human disease

1 reference

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6 July 2018

A general framework for estimating the relative pathogenicity of human genetic variants

1 reference

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Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database

1 reference

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Organizing principles of mammalian nonsense-mediated mRNA decay

1 reference

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In silico tools for splicing defect prediction: a survey from the viewpoint of end users

1 reference

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Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene

1 reference

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ACMG clinical laboratory standards for next-generation sequencing

1 reference

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6 July 2018

Free the data: one laboratory's approach to knowledge-based genomic variant classification and preparation for EMR integration of genomic data

1 reference

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Predicting the functional effect of amino acid substitutions and indels

1 reference

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Calibration of multiple in silico tools for predicting pathogenicity of mismatch repair gene missense substitutions

1 reference

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6 July 2018

A report template for molecular genetic tests designed to improve communication between the clinician and laboratory

1 reference

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6 July 2018

Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variants

1 reference

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A "Copernican" reassessment of the human mitochondrial DNA tree from its root

1 reference

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Communicating new knowledge on previously reported genetic variants

1 reference

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6 July 2018

Prediction of missense mutation functionality depends on both the algorithm and sequence alignment employed

1 reference

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MutationTaster evaluates disease-causing potential of sequence alterations

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Genomewide association studies and assessment of the risk of disease

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Genetic heterogeneity in human disease

1 reference

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A method and server for predicting damaging missense mutations

1 reference

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6 July 2018

Association between a literature-based genetic risk score and cardiovascular events in women

1 reference

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6 July 2018

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

1 reference

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6 July 2018

Genomewide association studies and human disease

1 reference

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6 July 2018

Clinician perspectives about molecular genetic testing for heritable conditions and development of a clinician-friendly laboratory report

1 reference

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Genotype score in addition to common risk factors for prediction of type 2 diabetes

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Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results

1 reference

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6 July 2018

In silico analysis of missense substitutions using sequence-alignment based methods

1 reference

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Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation

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Ordering molecular genetic tests and reporting results: practices in laboratory and clinical settings

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Improving sequence variant descriptions in mutation databases and literature using the Mutalyzer sequence variation nomenclature checker.

1 reference

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Diagnostic challenges of mitochondrial DNA disorders

1 reference

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Integrated evaluation of DNA sequence variants of unknown clinical significance: application to BRCA1 and BRCA2

1 reference

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A full-likelihood method for the evaluation of causality of sequence variants from family data

1 reference

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College of American Pathologists' laboratory standards for next-generation sequencing clinical tests

1 reference

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American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants

1 reference

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Describing structural changes by extending HGVS sequence variation nomenclature.

1 reference

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27 October 2018

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1 reference

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1 reference

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Duty to re-contact.

1 reference

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Performance of mutation pathogenicity prediction methods on missense variants

1 reference

https://pubmed.ncbi.nlm.nih.gov/25741868

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based on heuristic

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ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007

1 reference

https://pubmed.ncbi.nlm.nih.gov/25741868

12 December 2020

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1 reference

https://pubmed.ncbi.nlm.nih.gov/25741868

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1 reference

https://pubmed.ncbi.nlm.nih.gov/25741868

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based on heuristic

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mtDNA tree Build 17 (18 Feb 2016)

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https://api.crossref.org/works/10.1038%2FGIM.2015.30

7 January 2021

based on heuristic

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The relation between genotype and phenotype in cystic fibrosis--analysis of the most common mutation (delta F508).

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.30

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based on heuristic

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Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans

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https://api.crossref.org/works/10.1038%2FGIM.2015.30

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10.1038/GIM.2015.30

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2 August 2017

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Standards and guidelines for the ... preview & related info | Mendeley (British English)

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