(Q39727996)

14 September 2017

Consideration of Cosegregation in the Pathogenicity Classification of Genomic Variants (English)

1 reference

14 September 2017

1

Gail P Jarvik

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author name string

Brian L Browning

series ordinal

2

1 reference

PMCID

4908147

14 September 2017

language of work or name

English

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publication date

26 May 2016

1 reference

American Journal of Human Genetics

14 September 2017

1 reference

14 September 2017

98

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14 September 2017

1077-1081

1 reference

14 September 2017

6

1 reference

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

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4908147

Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4908147

ClinVar: public archive of interpretations of clinically relevant variants

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4908147

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

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4908147

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

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4908147

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

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4908147

10.1016/J.AJHG.2016.04.003

20 August 2018

Identifiers

DOI

1 reference

14 September 2017

1 reference

14 September 2017

1 reference

PMCID

4908147