about
Harnessing public domain data to discover and validate therapeutic targets.Whole genome sequencing of one complex pedigree illustrates challenges with genomic medicineA pipeline combining multiple strategies for prioritizing heterozygous variants for the identification of candidate genes in exome datasetsRecent advances in predicting gene-disease associationsDefining Disease, Diagnosis, and Translational Medicine within a Homeostatic Perturbation Paradigm: The National Institutes of Health Undiagnosed Diseases Program Experience.Systematic screening for skin, hair, and nail abnormalities in a large-scale knockout mouse program.Integrated network analysis reveals potentially novel molecular mechanisms and therapeutic targets of refractory epilepsies.HGVA: the Human Genome Variation Archive.Mouse Genome Informatics (MGI) Resource: Genetic, Genomic, and Biological Knowledgebase for the Laboratory Mouse.The anatomy of phenotype ontologies: principles, properties and applications.International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases.Future of Rare Diseases Research 2017-2027: an IRDiRC Perspective."Matching" consent to purpose: The example of the Matchmaker Exchange.modPhEA: model organism Phenotype Enrichment Analysis of eukaryotic gene sets.The Impact of Next-Generation Sequencing on the Diagnosis and Treatment of Epilepsy in Paediatric Patients.Disease model discovery from 3,328 gene knockouts by The International Mouse Phenotyping Consortium.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.Revisiting biomarker discovery by plasma proteomics.Prediction of Human Phenotype Ontology terms by means of hierarchical ensemble methods.Intersection of Proteomics and Genomics to "Solve the Unsolved" in Rare Disorders such as Neurodegenerative and Neuromuscular Diseases.Genomic analysis of an infant with intractable diarrhea and dilated cardiomyopathy.Whole genome sequencing in psychiatric disorders: the WGSPD consortium.Natural History, Trial Readiness and Gene Discovery: Advances in Patient Registries for Neuromuscular Disease.The International Rare Diseases Research Consortium: Policies and Guidelines to maximize impact.A novel missense mutation in HSF4 causes autosomal-dominant congenital lamellar cataract in a British family.VarCards: an integrated genetic and clinical database for coding variants in the human genome.Identifying Human Phenotype Terms by Combining Machine Learning and Validation Rules.Molecular Autopsy for Sudden Death in the Young: Is Data Aggregation the Key?eRAM: encyclopedia of rare disease annotations for precision medicine.ClinVar: improving access to variant interpretations and supporting evidence.The retina/RPE proteome in chick myopia and hyperopia models: Commonalities with inherited and age-related ocular pathologies.PedAM: a database for Pediatric Disease Annotation and Medicine.Whole exome sequencing in 342 congenital cardiac left sided lesion cases reveals extensive genetic heterogeneity and complex inheritance patterns.An ontology-aware integration of clinical models, terminologies and guidelines: an exploratory study of the Scale for the Assessment and Rating of Ataxia (SARA).The European Bioinformatics Institute in 2017: data coordination and integration.Clinical and research strategies for limb-girdle congenital myasthenic syndromes.Update on 13 Syndromes Affecting Craniofacial and Dental Structures.Mouse Genome Database (MGD)-2018: knowledgebase for the laboratory mouse.Evaluation of exome filtering techniques for the analysis of clinically relevant genes.
P2860
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P2860
description
2016 nî lūn-bûn
@nan
2016 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2016 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2016年の論文
@ja
2016年論文
@yue
2016年論文
@zh-hant
2016年論文
@zh-hk
2016年論文
@zh-mo
2016年論文
@zh-tw
2016年论文
@wuu
name
The Human Phenotype Ontology in 2017
@ast
The Human Phenotype Ontology in 2017
@en
The Human Phenotype Ontology in 2017
@nl
type
label
The Human Phenotype Ontology in 2017
@ast
The Human Phenotype Ontology in 2017
@en
The Human Phenotype Ontology in 2017
@nl
prefLabel
The Human Phenotype Ontology in 2017
@ast
The Human Phenotype Ontology in 2017
@en
The Human Phenotype Ontology in 2017
@nl
P2093
P2860
P50
P356
P1476
The Human Phenotype Ontology in 2017
@en
P2093
Andreas Zankl
Andrew D Devereau
Annie Olry
Bert B A de Vries
Catherine Turner
Cornelius F Boerkoel
Courtney Hum
Cynthia L Smith
Daniel Greene
P2860
P304
P356
10.1093/NAR/GKW1039
P407
P50
P577
2016-11-28T00:00:00Z