Comparison and integration of deleteriousness prediction methods for nonsynonymous SNVs in whole exome sequencing studies - Wikidata - wikimedia - TriplyDB

Comparison and integration of deleteriousness prediction methods for nonsynonymous SNVs in whole exome sequencing studies

Comparison and integration of deleteriousness prediction methods for nonsynonymous SNVs in whole exome sequencing studies

http://www.wikidata.org/entity/Q35221430

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Understanding rare and common diseases in the context of human evolution TBCE Mutations Cause Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy The population genomics of rhesus macaques (Macaca mulatta) based on whole-genome sequences A Biobank of Breast Cancer Explants with Preserved Intra-tumor Heterogeneity to Screen Anticancer Compounds Rare and low-frequency variants and their association with plasma levels of fibrinogen, FVII, FVIII, and vWF Biallelic Mutations in TBCD, Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy Structural, Functional, and Clinical Characterization of a Novel PTPN11 Mutation Cluster Underlying Noonan Syndrome Genetics and Genomics of Congenital Heart Disease.A pipeline combining multiple strategies for prioritizing heterozygous variants for the identification of candidate genes in exome datasets The role of functional data in interpreting the effects of genetic variation Incorporating ENCODE information into association analysis of whole genome sequencing data.A Survey of Computational Tools to Analyze and Interpret Whole Exome Sequencing Data Genetic profiling of a rare condition: co-occurrence of albinism and multiple primary melanoma in a Caucasian family.Iterative Sequencing and Variant Screening (ISVS) as a novel pathogenic mutations search strategy - application for TMPRSS3 mutations screen Whole exome sequencing and DNA methylation analysis in a clinical amyotrophic lateral sclerosis cohort ClinLabGeneticist: a tool for clinical management of genetic variants from whole exome sequencing in clinical genetic laboratories.RET and EDNRB mutation screening in patients with Hirschsprung disease: Functional studies and its implications for genetic counseling.Secondary findings and carrier test frequencies in a large multiethnic sample.Increased burden of de novo predicted deleterious variants in complex congenital diaphragmatic hernia.Autism Linked to Increased Oncogene Mutations but Decreased Cancer Rate.Towards Increasing the Clinical Relevance of In Silico Methods to Predict Pathogenic Missense Variants PredictSNP2: A Unified Platform for Accurately Evaluating SNP Effects by Exploiting the Different Characteristics of Variants in Distinct Genomic Regions.Long-read sequencing and de novo assembly of a Chinese genome Cystinuria Associated with Different SLC7A9 Gene Variants in the Cat Inferring Crohn's disease association from exome sequences by integrating biological knowledge.G23D: Online tool for mapping and visualization of genomic variants on 3D protein structures.Germline Variants of Prostate Cancer in Japanese Families.GTB - an online genome tolerance browser Predicting Severity of Disease-Causing Variants.Polygenic inheritance of cryptorchidism susceptibility in the LE/orl rat.Genomic variant annotation and prioritization with ANNOVAR and wANNOVAR.dbNSFP v3.0: A One-Stop Database of Functional Predictions and Annotations for Human Nonsynonymous and Splice-Site SNVs.De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies.Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients.ACOX2 deficiency: A disorder of bile acid synthesis with transaminase elevation, liver fibrosis, ataxia, and cognitive impairment.Challenges and disparities in the application of personalized genomic medicine to populations with African ancestry.REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants.Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.Functional Studies and In Silico Analyses to Evaluate Non-Coding Variants in Inherited Cardiomyopathies.Digenic mutations of human OCRL paralogs in Dent's disease type 2 associated with Chiari I malformation.

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Comparison and integration of deleteriousness prediction methods for nonsynonymous SNVs in whole exome sequencing studies

http://www.wikidata.org/entity/Q35221430

description

2014 nî lūn-bûn

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2014 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած

@hyw

2014 թվականի դեկտեմբերին հրատարակված գիտական հոդված

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2014年の論文

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2014年論文

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2014年論文

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2014年論文

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2014年論文

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2014年論文

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2014年论文

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Comparison and integration of ...... whole exome sequencing studies

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Chengliang Dong

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Kai Wang

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Peng Wei

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Richard Gibbs

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Xiaoming Liu

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Xueqiu Jian

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P2860

Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project

An integrated map of genetic variation from 1,092 human genomes

Improved exome prioritization of disease genes through cross-species phenotype comparison

The Universal Protein Resource (UniProt): an expanding universe of protein information.

Ongoing and future developments at the Universal Protein Resource

A map of human genome variation from population-scale sequencing

A method and server for predicting damaging missense mutations

Predicting the effects of amino acid substitutions on protein function

Whole-genome sequence-based analysis of high-density lipoprotein cholesterol

Integrated enrichment analysis of variants and pathways in genome-wide association studies indicates central role for IL-2 signaling genes in type 1 diabetes, and cytokine signaling genes in Crohn's disease

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8

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