Genetic evidence and integration of various data sources for classifying uncertain variants into a single model (Q33379396)

26 July 2017

title

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

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26 July 2017

Amanda B Spurdle

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Graham B Byrnes

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Douglas F Easton

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26 July 2017

William David Foulkes

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ORCID Public Data File 2021

David Goldgar

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object named as

David E Goldgar

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26 July 2017

Edwin S Iversen

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26 July 2017

Marc S Greenblatt

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26 July 2017

IARC Unclassified Genetic Variants Working Group

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1 reference

26 July 2017

language of work or name

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1 November 2008

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26 July 2017

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26 July 2017

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26 July 2017

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26 July 2017

page(s)

1265-1272

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Assessment of functional effects of unclassified genetic variants

26 July 2017

cites work

1 reference

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14 July 2018

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Tumor characteristics as an analytic tool for classifying genetic variants of uncertain clinical significance.

14 July 2018

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14 July 2018

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

14 July 2018

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Classification of Missense Mutations of Disease Genes

14 July 2018

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A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes

14 July 2018

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Case-control association testing with related individuals: a more powerful quasi-likelihood score test

14 July 2018

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14 July 2018

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Functional analysis helps to clarify the clinical importance of unclassified variants in DNA mismatch repair genes

14 July 2018

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Interpreting missense variants: comparing computational methods in human disease genes CDKN2A, MLH1, MSH2, MECP2, and tyrosinase (TYR).

14 July 2018

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Functional impact of missense variants in BRCA1 predicted by supervised learning

14 July 2018

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On the probability that a novel variant is a disease-causing mutation

14 July 2018

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Sequence variation in G-protein-coupled receptors: analysis of single nucleotide polymorphisms

14 July 2018

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14 July 2018

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

14 July 2018

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A new scoring system for the chances of identifying a BRCA1/2 mutation outperforms existing models including BRCAPRO

14 July 2018

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

14 July 2018

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Biallelic inactivation of BRCA2 in Fanconi anemia

14 July 2018

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Missense mutations in disease genes: a Bayesian approach to evaluate causality

14 July 2018

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14 July 2018

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Classification of rare missense substitutions, using risk surfaces, with genetic- and molecular-epidemiology applications.

14 July 2018

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

31 October 2018

1 reference

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Accurate classification of MLH1/MSH2 missense variants with multivariate analysis of protein polymorphisms-mismatch repair (MAPP-MMR).

31 October 2018

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A Bayesian mixture model for metaanalysis of microarray studies.

31 October 2018

1 reference

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Systematic mRNA analysis for the effect of MLH1 and MSH2 missense and silent mutations on aberrant splicing.

31 October 2018

1 reference

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Two PMS2 mutations in a Turcot syndrome family with small bowel cancers.

31 October 2018

1 reference

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Update on the Manchester Scoring System for BRCA1 and BRCA2 testing

31 October 2018

1 reference

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BRCAPRO validation, sensitivity of genetic testing of BRCA1/BRCA2, and prevalence of other breast cancer susceptibility genes

31 October 2018

1 reference

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Clinical Classification ofBRCA1andBRCA2DNA Sequence Variants: The Value of Cytokeratin Profiles and Evolutionary Analysis—A Report From the kConFab Investigators

31 October 2018

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Classification of ambiguous mutations in DNA mismatch repair genes identified in a population-based study of colorectal cancer

31 October 2018

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Genetic and Histopathologic Evaluation ofBRCA1andBRCA2DNA Sequence Variants of Unknown Clinical Significance

31 October 2018

1 reference

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Application of embryonic lethal or other obvious phenotypes to characterize the clinical significance of genetic variants found in trans with known deleterious mutations

31 October 2018

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12 December 2020

Human MLH1 deficiency predisposes to hematological malignancy and neurofibromatosis type 1

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12 December 2020

Neurofibromatosis and early onset of cancers in hMLH1-deficient children

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12 December 2020

Alleles of APC modulate the frequency and classes of mutations that lead to colon polyps

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12 December 2020

Identifiers

DOI

10.1002/HUMU.20897

1 reference

26 July 2017

1 reference

26 July 2017

1 reference