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Identifying Mendelian disease genes with the variant effect scoring tool

Identifying Mendelian disease genes with the variant effect scoring tool

http://www.wikidata.org/entity/Q34790685

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Predicting survival in head and neck squamous cell carcinoma from TP53 mutation.MuPIT interactive: webserver for mapping variant positions to annotated, interactive 3D structures.Statistically identifying tumor suppressors and oncogenes from pan-cancer genome-sequencing data A Survey of Computational Tools to Analyze and Interpret Whole Exome Sequencing Data Lost in translation: returning germline genetic results in genome-scale cancer research Mendel,MD: A user-friendly open-source web tool for analyzing WES and WGS in the diagnosis of patients with Mendelian disorders.Prioritization of neurodevelopmental disease genes by discovery of new mutations.An unusual genomic variant of pancreatic ductal adenocarcinoma with an indolent clinical course.The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine Variation Interpretation Predictors: Principles, Types, Performance, and Choice.Thoughts from SNP-SIG 2012: future challenges in the annotation of genetic variations.Managing large-scale genomic datasets and translation into clinical practice.A probabilistic model to predict clinical phenotypic traits from genome sequencing Marine microbial community dynamics and their ecological interpretation.Structure-Based Analysis Reveals Cancer Missense Mutations Target Protein Interaction Interfaces Systematic Functional Interrogation of Rare Cancer Variants Identifies Oncogenic Alleles KinMutRF: a random forest classifier of sequence variants in the human protein kinase superfamily.Predicted Molecular Effects of Sequence Variants Link to System Level of Disease Targeted Sequencing of FKBP5 in Suicide Attempters with Bipolar Disorder.Predicting Severity of Disease-Causing Variants.The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies.Identification of Variant-Specific Functions of PIK3CA by Rapid Phenotyping of Rare Mutations High-confidence assessment of functional impact of human mitochondrial non-synonymous genome variations by APOGEE dbNSFP v3.0: A One-Stop Database of Functional Predictions and Annotations for Human Nonsynonymous and Splice-Site SNVs.CRAVAT: cancer-related analysis of variants toolkit.Recurrent Mutations of Chromatin-Remodeling Genes and Kinase Receptors in Pheochromocytomas and Paragangliomas.An extended set of yeast-based functional assays accurately identifies human disease mutations.Network-Informed Gene Ranking Tackles Genetic Heterogeneity in Exome-Sequencing Studies of Monogenic Disease Exome and deep sequencing of clinically aggressive neuroblastoma reveal somatic mutations that affect key pathways involved in cancer progression Assessing the Pathogenicity of Insertion and Deletion Variants with the Variant Effect Scoring Tool (VEST-Indel).REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants.iCAGES: integrated CAncer GEnome Score for comprehensively prioritizing driver genes in personal cancer genomes.Computational approaches to identify functional genetic variants in cancer genomes Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation.Objective assessment of the evolutionary action equation for the fitness effect of missense mutations across CAGI-blinded contests.Targeted sequencing-based analyses of candidate gene variants in ulcerative colitis-associated colorectal neoplasia.Missense variant pathogenicity predictors generalize well across a range of function-specific prediction challenges.How to Identify Pathogenic Mutations among All Those Variations: Variant Annotation and Filtration in the Genome Sequencing Era.In Silico Prediction of Deleteriousness for Nonsynonymous and Splice-Altering Single Nucleotide Variants in the Human Genome.Unsupervised detection of cancer driver mutations with parsimony-guided learning.

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Identifying Mendelian disease genes with the variant effect scoring tool

http://www.wikidata.org/entity/Q34790685

description

2013 nî lūn-bûn

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2013 թուականի Մայիսին հրատարակուած գիտական յօդուած

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2013 թվականի մայիսին հրատարակված գիտական հոդված

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2013年の論文

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2013年論文

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2013年論文

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2013年論文

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2013年論文

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2013年論文

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2013年论文

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name

Identifying Mendelian disease genes with the variant effect scoring tool

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Identifying Mendelian disease genes with the variant effect scoring tool

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Identifying Mendelian disease genes with the variant effect scoring tool

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type

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Identifying Mendelian disease genes with the variant effect scoring tool

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Identifying Mendelian disease genes with the variant effect scoring tool

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Identifying Mendelian disease genes with the variant effect scoring tool

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prefLabel

Identifying Mendelian disease genes with the variant effect scoring tool

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Identifying Mendelian disease genes with the variant effect scoring tool

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Identifying Mendelian disease genes with the variant effect scoring tool

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1471-2164-14-S3-S3

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Identifying Mendelian disease genes with the variant effect scoring tool

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Christopher Douville

http://www.w3.org/2001/XMLSchema#string

Hannah Carter

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Peter D Stenson

http://www.w3.org/2001/XMLSchema#string

Rachel Karchin

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P2860

Mutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndrome

The NCBI dbGaP database of genotypes and phenotypes

Exome sequencing in Brown-Vialetto-van Laere syndrome

Exome sequencing identifies the cause of a mendelian disorder

Targeted capture and massively parallel sequencing of 12 human exomes

A map of human genome variation from population-scale sequencing

The UCSC Genome Browser database: update 2011

Fast and accurate short read alignment with Burrows-Wheeler transform

The human genome browser at UCSC

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

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14 Suppl 3

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David N. Cooper

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2013-05-28T00:00:00Z

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