A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease.
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The Human Phenotype Ontology in 2017The Monarch Initiative: an integrative data and analytic platform connecting phenotypes to genotypes across speciesWhole genome sequencing of one complex pedigree illustrates challenges with genomic medicineSemantic prioritization of novel causative genomic variantsGenome annotation for clinical genomic diagnostics: strengths and weaknessesImbalance-Aware Machine Learning for Predicting Rare and Common Disease-Associated Non-Coding Variants[Diagnostics in human genetics : Integration of phenotypic and genomic data].CAGI4 SickKids clinical genomes challenge: A pipeline for identifying pathogenic variants.International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases.Whole gene sequencing identifies deep-intronic variants with potential functional impact in patients with hypertrophic cardiomyopathy.GeneHancer: genome-wide integration of enhancers and target genes in GeneCards.Prediction of Human Phenotype Ontology terms by means of hierarchical ensemble methods.Human gene essentiality.Principles and methods of in-silico prioritization of non-coding regulatory variants.The immune system as a social network.IW-Scoring: an Integrative Weighted Scoring framework for annotating and prioritizing genetic variations in the noncoding genome.The NSIGHT1-randomized controlled trial: rapid whole-genome sequencing for accelerated etiologic diagnosis in critically ill infants.The VAAST Variant Prioritizer (VVP): ultrafast, easy to use whole genome variant prioritization tool.Network medicine: a new paradigm for cardiovascular disease research and beyond.Settling the score: variant prioritization and Mendelian disease.De novo mutations in regulatory elements in neurodevelopmental disorders.SNPnexus: assessing the functional relevance of genetic variation to facilitate the promise of precision medicine.OligoPVP: Phenotype-driven analysis of individual genomic information to prioritize oligogenic disease variants
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P2860
A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease.
description
article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on 25 August 2016
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
A Whole-Genome Analysis Framew ...... Variants in Mendelian Disease.
@en
A Whole-Genome Analysis Framew ...... Variants in Mendelian Disease.
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type
label
A Whole-Genome Analysis Framew ...... Variants in Mendelian Disease.
@en
A Whole-Genome Analysis Framew ...... Variants in Mendelian Disease.
@nl
prefLabel
A Whole-Genome Analysis Framew ...... Variants in Mendelian Disease.
@en
A Whole-Genome Analysis Framew ...... Variants in Mendelian Disease.
@nl
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P2860
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A Whole-Genome Analysis Framew ...... Variants in Mendelian Disease.
@en
P2093
Christopher J Mungall
Harry Hochheiser
Julius O B Jacobsen
Marten Jäger
Nicole L Washington
Sebastian Köhler
Suzanna E Lewis
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P304
P356
10.1016/J.AJHG.2016.07.005
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P577
2016-08-25T00:00:00Z