(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

1 reference

Europe PubMed Central

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)

1 reference

Europe PubMed Central

2 August 2017

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medical genetics

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1 reference

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Heidi L Rehm

12

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Julie Gastier-Foster

6

object named as

Julie Gastier-Foster

1 reference

Europe PubMed Central

2 August 2017

author name string

Sue Richards

1

1 reference

Europe PubMed Central

2 August 2017

Nazneen Aziz

2

1 reference

Europe PubMed Central

2 August 2017

Sherri Bale

3

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Europe PubMed Central

2 August 2017

David Bick

4

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Europe PubMed Central

2 August 2017

Soma Das

5

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Europe PubMed Central

2 August 2017

Wayne W Grody

7

1 reference

Europe PubMed Central

2 August 2017

Madhuri Hegde

8

1 reference

Europe PubMed Central

2 August 2017

Elaine Lyon

9

1 reference

Europe PubMed Central

2 August 2017

Elaine Spector

10

1 reference

Europe PubMed Central

2 August 2017

Karl Voelkerding

11

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Europe PubMed Central

2 August 2017

ACMG Laboratory Quality Assurance Committee

13

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Europe PubMed Central

2 August 2017

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publication date

5 March 2015

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2 August 2017

1 May 2015

5 references

30 June 2019

22 July 2019

14 September 2019

19 September 2019

19 November 2020

Genetics in Medicine

6 references

Europe PubMed Central

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

2 August 2017

5

1 reference

Europe PubMed Central

2 August 2017

405-424

1 reference

Europe PubMed Central

2 August 2017

https://scigraph.springernature.com/pub.10.1038/gim.2015.30

0 references

Guidelines for investigating causality of sequence variants in human disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4544753

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4544753

6 July 2018

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

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4544753

6 July 2018

Organizing principles of mammalian nonsense-mediated mRNA decay

1 reference

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6 July 2018

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

1 reference

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6 July 2018

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

1 reference

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6 July 2018

ACMG clinical laboratory standards for next-generation sequencing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4544753

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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6 July 2018

Predicting the functional effect of amino acid substitutions and indels

1 reference

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6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4544753

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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6 July 2018

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

1 reference

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6 July 2018

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

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4544753

6 July 2018

MutationTaster evaluates disease-causing potential of sequence alterations

1 reference

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6 July 2018

Genomewide association studies and assessment of the risk of disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4544753

6 July 2018

Genetic heterogeneity in human disease

1 reference

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6 July 2018

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

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4544753

6 July 2018

Genomewide association studies and human disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4544753

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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6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4544753

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4544753

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4544753

6 July 2018

Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4544753

6 July 2018

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

1 reference

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6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4544753

6 July 2018

Diagnostic challenges of mitochondrial DNA disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4544753

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4544753

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4544753

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4544753

27 October 2018

The impact of chromosomal microarray on clinical management: a retrospective analysis.

1 reference

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27 October 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4544753

27 October 2018

Describing structural changes by extending HGVS sequence variation nomenclature.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4544753

27 October 2018

The KIF6Collapse⁎⁎Editorials published in the Journal of the American College of Cardiologyreflect the views of the authors and do not necessarily represent the views of JACCor the American College of Cardiology

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4544753

27 October 2018

Likelihood ratios to assess genetic evidence for clinical significance of uncertain variants: hereditary hemorrhagic telangiectasia as a model

1 reference

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27 October 2018

Duty to re-contact.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4544753

27 October 2018

Performance of mutation pathogenicity prediction methods on missense variants

1 reference

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

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

based on heuristic

inferred from PubMed ID database lookup

Prospects for whole-genome linkage disequilibrium mapping of common disease genes

1 reference

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

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Intronic variants in BRCA1 and BRCA2 that affect RNA splicing can be reliably selected by splice-site prediction programs

1 reference

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

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

mtDNA tree Build 17 (18 Feb 2016)

1 reference

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

7 January 2021

based on heuristic

inferred from DOI database lookup

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

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

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

7 January 2021

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10.1038/GIM.2015.30

1 reference

Europe PubMed Central

2 August 2017

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c6422690-858d-3985-9afe-fec0f640ef6b

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https://www.mendeley.com/catalogue/c6422690-858d-3985-9afe-fec0f640ef6b/

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

8 October 2022

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Europe PubMed Central

2 August 2017

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Europe PubMed Central

2 August 2017

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