Consensus: a framework for evaluation of uncertain gene variants in laboratory test reporting (Q36424763)

14 August 2017

Consensus: a framework for evaluation of uncertain gene variants in laboratory test reporting (English)

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14 August 2017

Marc S Williams

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Julio C Facelli

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Julio C Facelli

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author name string

David K Crockett

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14 August 2017

Perry G Ridge

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14 August 2017

Andrew R Wilson

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14 August 2017

Elaine Lyon

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14 August 2017

Scott P Narus

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14 August 2017

Joyce A Mitchell

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14 August 2017

28 May 2012

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48

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https://scigraph.springernature.com/pub.10.1186/gm347

14 August 2017

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cites work

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Disentangling the Babylonian speech confusion in genetic counseling: an analysis of the reliability and validity of the nomenclature for BRCA1/2 DNA-test results other than pathogenic

30 September 2017

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Genetic evidence and integration of various data sources for classifying uncertain variants into a single model

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Graphical presentation of diagnostic information.

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Radar plots: a useful way for presenting multivariate health care data

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30 September 2017

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30 September 2017

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SIFT: Predicting amino acid changes that affect protein function

30 September 2017

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30 September 2017

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30 September 2017

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30 September 2017

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28 June 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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Variants of Uncertain Clinical Significance as a Result of BRCA1/2 Testing: Impact of an Ambiguous Breast Cancer Risk Message

21 September 2018

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The case for locus-specific databases

21 January 2018

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12 December 2020

Patients with an unclassified genetic variant in the BRCA1 or BRCA2 genes show different clinical features from those with a mutation

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12 December 2020

Mutations in the BH4-metabolizing genes GTP cyclohydrolase I, 6-pyruvoyl-tetrahydropterin synthase, sepiapterin reductase, carbinolamine-4a-dehydratase, and dihydropteridine reductase

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12 December 2020

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

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12 December 2020

Challenges in the clinical application of whole-genome sequencing

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12 December 2020

Human genome 10th anniversary. Human genetics in the clinic, one click away

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12 December 2020

Identifiers

DOI

10.1186/GM347

1 reference

Dimensions Publication ID

14 August 2017

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14 August 2017

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