Next-generation diagnostics and disease-gene discovery with the Exomiser
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The Human Phenotype Ontology in 2017Heterozygous Pathogenic Variant in DACT1 Causes an Autosomal-Dominant Syndrome with Features Overlapping Townes-Brocks SyndromeRecent advances in predicting gene-disease associationsPhenomeCentral: a portal for phenotypic and genotypic matchmaking of patients with rare genetic diseasesFactors affecting interactome-based prediction of human genes associated with clinical signs.Germline Variants of Prostate Cancer in Japanese Families.[Diagnostics in human genetics : Integration of phenotypic and genomic data].QueryOR: a comprehensive web platform for genetic variant analysis and prioritizationMSeqDR: A Centralized Knowledge Repository and Bioinformatics Web Resource to Facilitate Genomic Investigations in Mitochondrial DiseaseA Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease.Alternate-locus aware variant calling in whole genome sequencing.Bio-TDS: bioscience query tool discovery system.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.Molecular findings from 537 individuals with inherited retinal disease.How to Identify Pathogenic Mutations among All Those Variations: Variant Annotation and Filtration in the Genome Sequencing Era.Disease model discovery from 3,328 gene knockouts by The International Mouse Phenotyping Consortium.Late-onset Bartter syndrome type II.Evaluating phenotype-driven approaches for genetic diagnoses from exomes in a clinical setting.Evaluation of exome filtering techniques for the analysis of clinically relevant genes.A recurrent de novo missense mutation in UBTF causes developmental neuroregression.Preparing Data at the Source to Foster Interoperability across Rare Disease Resources.Biallelic Mutations in Mitochondrial Tryptophanyl-tRNA Synthetase Cause Levodopa-Rresponsive Infantile-Onset Parkinsonism.Investigations on factors influencing HPO-based semantic similarity calculation.Settling the score: variant prioritization and Mendelian disease.Improved ontology-based similarity calculations using a study-wise annotation model.Hemolytic anemia with null PKLR mutations identified using whole exome sequencing and cured by hematopoietic stem cell transplantation combined with splenectomy.PhenoRank: reducing study bias in gene prioritisation through simulation.A new method to measure the semantic similarity from query phenotypic abnormalities to diseases based on the human phenotype ontology.Phenotype-driven gene prioritization for rare diseases using graph convolution on heterogeneous networks.CDG: An Online Server for Detecting Biologically Closest Disease-Causing Genes and its Application to Primary Immunodeficiency.An online tool for measuring and visualizing phenotype similarities using HPO
P2860
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P2860
Next-generation diagnostics and disease-gene discovery with the Exomiser
description
2015 nî lūn-bûn
@nan
2015 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2015 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2015年の論文
@ja
2015年論文
@yue
2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
@zh-tw
2015年论文
@wuu
name
Next-generation diagnostics and disease-gene discovery with the Exomiser
@ast
Next-generation diagnostics and disease-gene discovery with the Exomiser
@en
type
label
Next-generation diagnostics and disease-gene discovery with the Exomiser
@ast
Next-generation diagnostics and disease-gene discovery with the Exomiser
@en
prefLabel
Next-generation diagnostics and disease-gene discovery with the Exomiser
@ast
Next-generation diagnostics and disease-gene discovery with the Exomiser
@en
P2093
P2860
P50
P356
P1433
P1476
Next-generation diagnostics and disease-gene discovery with the Exomiser
@en
P2093
Enrico Siragusa
Julius O B Jacobsen
Manuel Holtgrewe
Marten Jäger
Max Schubach
Nicole L Washington
Orion J Buske
William P Bone
P2860
P2888
P304
P356
10.1038/NPROT.2015.124
P577
2015-11-12T00:00:00Z
P6179
1028426805