Phenolyzer: phenotype-based prioritization of candidate genes for human diseases.
about
The Human Phenotype Ontology in 2017SCN8A mutation in a child presenting with seizures and developmental delaysWhole genome sequencing of one complex pedigree illustrates challenges with genomic medicinemirVAFC: A Web Server for Prioritizations of Pathogenic Sequence Variants from Exome Sequencing Data via Classifications.Inference of domain-disease associations from domain-protein, protein-disease and disease-disease relationships.VarElect: the phenotype-based variation prioritizer of the GeneCards Suite.QueryOR: a comprehensive web platform for genetic variant analysis and prioritizationGenomic variant annotation and prioritization with ANNOVAR and wANNOVAR.Semantic interrogation of a multi knowledge domain ontological model of tendinopathy identifies four strong candidate risk genes.Phenotype Similarity Regression for Identifying the Genetic Determinants of Rare DiseasesAssociation Study for 26 Candidate Loci in Idiopathic Pulmonary Fibrosis Patients from Four European Populations.A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease.Genome sequencing in a case of Niemann-Pick type CKBG syndrome involving a single-nucleotide duplication in ANKRD11.iCAGES: integrated CAncer GEnome Score for comprehensively prioritizing driver genes in personal cancer genomes.iRegNet3D: three-dimensional integrated regulatory network for the genomic analysis of coding and non-coding disease mutations.The Importance of Endophenotypes to Evaluate the Relationship between Genotype and External Phenotype.CAGI4 SickKids clinical genomes challenge: A pipeline for identifying pathogenic variants.Leveraging network analytics to infer patient syndrome and identify causal genes in rare disease cases.Working toward precision medicine: Predicting phenotypes from exomes in the Critical Assessment of Genome Interpretation (CAGI) challenges.4C-seq revealed long-range interactions of a functional enhancer at the 8q24 prostate cancer risk locusHow to Identify Pathogenic Mutations among All Those Variations: Variant Annotation and Filtration in the Genome Sequencing Era.Comparative Analyses of Immunosuppressive Characteristics of Bone-Marrow, Wharton's Jelly, and Adipose Tissue-Derived Human Mesenchymal Stem Cells.Rapid whole-genome sequencing identifies a novel homozygous NPC1 variant associated with Niemann-Pick type C1 disease in a 7-week-old male with cholestasis.Rapid whole-genome sequencing identifies a novel GABRA1 variant associated with West syndrome.Two novel mutations in TMPRSS6 associated with iron-refractory iron deficiency anemia in a mother and child.DISNOR: a disease network open resource.Spatiotemporal profile of postsynaptic interactomes integrates components of complex brain disorders.VarCards: an integrated genetic and clinical database for coding variants in the human genome.Digenic mutations on SCAP and AGXT2 predispose to premature myocardial infarction.Comprehensive investigation of cytokine- and immune-related gene variants in HBV-associated hepatocellular carcinoma patients.Identification of de novo germline mutations and causal genes for sporadic diseases using trio-based whole-exome/genome sequencing.GenIO: a phenotype-genotype analysis web server for clinical genomics of rare diseases.Normalization of Hepatic Homeostasis in the Npc1nmf164 Mouse Model of Niemann-Pick Type C Disease Treated with the Histone Deacetylase Inhibitor Vorinostat.A phenotype centric benchmark of variant prioritisation tools.The NSIGHT1-randomized controlled trial: rapid whole-genome sequencing for accelerated etiologic diagnosis in critically ill infants.Phenotype-based gene analysis allowed successful diagnosis of X-linked neutropenia associated with a novel WASp mutation.Rapid whole genome sequencing identifies a novel AIRE variant associated with Autoimmune Polyendocrine Syndrome Type 1.Rare GCH1 heterozygous variants contributing to Parkinson's disease.Settling the score: variant prioritization and Mendelian disease.
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Phenolyzer: phenotype-based prioritization of candidate genes for human diseases.
description
2015 nî lūn-bûn
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2015年の論文
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2015年学术文章
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2015年学术文章
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2015年学术文章
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2015年学术文章
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2015年学术文章
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2015年學術文章
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2015年學術文章
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name
Phenolyzer: phenotype-based prioritization of candidate genes for human diseases.
@ast
Phenolyzer: phenotype-based prioritization of candidate genes for human diseases.
@en
type
label
Phenolyzer: phenotype-based prioritization of candidate genes for human diseases.
@ast
Phenolyzer: phenotype-based prioritization of candidate genes for human diseases.
@en
prefLabel
Phenolyzer: phenotype-based prioritization of candidate genes for human diseases.
@ast
Phenolyzer: phenotype-based prioritization of candidate genes for human diseases.
@en
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Phenolyzer: phenotype-based prioritization of candidate genes for human diseases.
@en
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10.1038/NMETH.3484
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2015-07-20T00:00:00Z