Contribution of bioinformatics predictions and functional splicing assays to the interpretation of unclassified variants of the BRCA genes - Wikidata - wikimedia - TriplyDB

Contribution of bioinformatics predictions and functional splicing assays to the interpretation of unclassified variants of the BRCA genes

Contribution of bioinformatics predictions and functional splicing assays to the interpretation of unclassified variants of the BRCA genes

http://www.wikidata.org/entity/Q35304241

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In silico tools for splicing defect prediction: a survey from the viewpoint of end users Comprehensive splicing functional analysis of DNA variants of the BRCA2 gene by hybrid minigenes Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variants Comparison of mRNA splicing assay protocols across multiple laboratories: recommendations for best practice in standardized clinical testing Analysis of 30 putative BRCA1 splicing mutations in hereditary breast and ovarian cancer families identifies exonic splice site mutations that escape in silico prediction.Full-exon pyrosequencing screening of BRCA germline mutations in Mexican women with inherited breast and ovarian cancer.Functional characterization of BRCA1 gene variants by mini-gene splicing assay.Variation Interpretation Predictors: Principles, Types, Performance, and Choice.Comparative in vitro and in silico analyses of variants in splicing regions of BRCA1 and BRCA2 genes and characterization of novel pathogenic mutations.Functional examination of MLH1, MSH2, and MSH6 intronic mutations identified in Danish colorectal cancer patients.Splicing analysis of 14 BRCA1 missense variants classifies nine variants as pathogenic Exonic Splicing Mutations Are More Prevalent than Currently Estimated and Can Be Predicted by Using In Silico Tools.Functional classification of DNA variants by hybrid minigenes: Identification of 30 spliceogenic variants of BRCA2 exons 17 and 18.Increased chromosomal radiosensitivity in asymptomatic carriers of a heterozygous BRCA1 mutation Analysis of the effects of rare variants on splicing identifies alterations in GABAA receptor genes in autism spectrum disorder individuals.Multifactorial likelihood assessment of BRCA1 and BRCA2 missense variants confirms that BRCA1:c.122A>G(p.His41Arg) is a pathogenic mutation.A Novel Pathogenic BRCA1 Splicing Variant Produces Partial Intron Retention in the Mature Messenger RNA.From single splicing events to thousands: the ambiguous step forward in splicing research.A classification model relative to splicing for variants of unknown clinical significance: application to the CFTR gene.RNA splicing: a new player in the DNA damage response Next generation sequencing to dissect the genetic architecture of KNG1 and F11 loci using factor XI levels as an intermediate phenotype of thrombosis.BRCA2 Hypomorphic Missense Variants Confer Moderate Risks of Breast Cancer.Estimating the prevalence of functional exonic splice regulatory information.BRCA Share: A Collection of Clinical BRCA Gene Variants.Functional Analysis of Missense Variants in the Putative Breast Cancer Susceptibility Gene XRCC2.Adding In Silico Assessment of Potential Splice Aberration to the Integrated Evaluation of BRCA Gene Unclassified Variants.Splicing analysis for exonic and intronic mismatch repair gene variants associated with Lynch syndrome confirms high concordance between minigene assays and patient RNA analyses.Evaluation of relative quantification of alternatively spliced transcripts using droplet digital PCR The Unravelling of the Genetic Architecture of Plasminogen Deficiency and its Relation to Thrombotic Disease BRCA1 point mutations in premenopausal breast cancer patients from Central Sudan.cDNA analysis of the BRCA1 unclassified variant c.5194-12G>A.Splicing Analysis of Exonic OCRL Mutations Causing Lowe Syndrome or Dent-2 Disease.Novel intronic RHD variants identified in serologically D-negative blood donors.Functional analysis of a large set of BRCA2 exon 7 variants highlights the predictive value of hexamer scores in detecting alterations of exonic splicing regulatory elements.Naturally occurring BRCA2 alternative mRNA splicing events in clinically relevant samples.Characterization of BRCA1 and BRCA2 variants found in a Norwegian breast or ovarian cancer cohort.The BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity.Genetic screening of the FLCN gene identify six novel variants and a Danish founder mutation.An intronic mutation c.6430-3C>G in the F8 gene causes splicing efficiency and premature termination in hemophilia A.Investigation of Experimental Factors That Underlie BRCA1/2 mRNA Isoform Expression Variation: Recommendations for Utilizing Targeted RNA Sequencing to Evaluate Potential Spliceogenic Variants.

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Contribution of bioinformatics predictions and functional splicing assays to the interpretation of unclassified variants of the BRCA genes

http://www.wikidata.org/entity/Q35304241

description

2011 nî lūn-bûn

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2011 թուականի Յունիսին հրատարակուած գիտական յօդուած

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2011 թվականի հունիսին հրատարակված գիտական հոդված

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2011年の論文

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2011年論文

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2011年論文

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2011年論文

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2011年論文

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2011年論文

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2011年论文

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Contribution of bioinformatics ...... ied variants of the BRCA genes

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Contribution of bioinformatics ...... ied variants of the BRCA genes

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Contribution of bioinformatics ...... ied variants of the BRCA genes

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Contribution of bioinformatics ...... ied variants of the BRCA genes

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Contribution of bioinformatics ...... ied variants of the BRCA genes

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Contribution of bioinformatics ...... ied variants of the BRCA genes

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European Journal of Human Genetics

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Contribution of bioinformatics ...... ied variants of the BRCA genes

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P2093

Agnès Hardouin

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Alexandra Martins

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Antoine Rousselin

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Audrey Killian

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Christiane Duponchel

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Dominique Vaur

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Françoise Révillion

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Jean Christophe Théry

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Jean-Philippe Peyrat

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Mario Tosi

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P2860

Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing

Splicing in action: assessing disease causing sequence changes

Oral poly(ADP-ribose) polymerase inhibitor olaparib in patients with BRCA1 or BRCA2 mutations and advanced breast cancer: a proof-of-concept trial

Classifying Variants of Undetermined Significance in BRCA2 with protein likelihood ratios.

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

Large genomic deletions and duplications in the BRCA1 gene identified by a novel quantitative method.

Functional assays for classification of BRCA2 variants of uncertain significance.

Detection of splicing aberrations caused by BRCA1 and BRCA2 sequence variants encoding missense substitutions: implications for prediction of pathogenicity

Splicing and multifactorial analysis of intronic BRCA1 and BRCA2 sequence variants identifies clinically significant splicing aberrations up to 12 nucleotides from the intron/exon boundary.

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

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1052-1058

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10.1038/EJHG.2011.100

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10

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19

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Marie-Pierre Buisine

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2011-06-15T00:00:00Z

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51219739

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21673748

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