Clingen Pathogenicity Calculator: A Configurable System For
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Results: In this report, we describe the design, implementation, and initial testing of the Clinical Genome Resource (ClinGen) Pathogenicity Calculator, a configurable system and web service Ähnliche Objekte (12) ClinGen Pathogenicity Calculator: a configurable system for assessing pathogenicity of genetic variants Pathogenicity Prediction of GABA A Receptor Missense ClinGen Pathogenicity Calculator: a configurable system for assessing pathogenicity of genetic variants
ClinGen Pathogenicity Calculator: a configurable system for assessing pathogenicity of genetic variants 作者 关键词 Genome sequencing, Exome sequencing, Clinical genome sequencing, ClinGen Pathogenicity Calculator: a configurable system for assessing pathogenicity of genetic variants Analysis of epigenetic changes in survivors of preterm birth reveals the effect of ClinGen Pathogenicity Calculator: a configurable system for assessing pathogenicity of genetic variants Analysis of epigenetic changes in survivors of preterm birth reveals the effect of
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ClinGen Pathogenicity Calculator: a configurable system for assessing pathogenicity of genetic variants Authors Keywords Genome sequencing, Exome sequencing, Clinical genome To enable wide application of these and related standards and the development of collective knowledge by the community, ClinGen has developed ClinGen Pathogenicity Calculator. ClinGen Pathogenicity Calculator: a configurable system for assessing pathogenicity of genetic variants Analysis of epigenetic changes in survivors of preterm birth reveals the effect of
ClinGen Pathogenicity Calculator: a configurable system for assessing pathogenicity of genetic variants Analysis of epigenetic changes in survivors of preterm birth reveals the effect of ClinGen guidance for use of the PP1/BS4 co-segregation and PP4 phenotype specificity criteria for sequence variant pathogenicity classification Publications – December 12, Results: In this report, we describe the design, implementation, and initial testing of the Clinical Genome Resource (ClinGen) Pathogenicity Calculator, a configurable system and web service
In this report, we describe the design, implementation, and initial testing of the Clinical Genome Resource (ClinGen) Pathogenicity Calculator, a configurable system and web service for the Results In this report, we describe the design, implementation, and initial testing of the Clinical Genome Resource (ClinGen) Pathogenicity Calculator, a configurable system and web service ClinGen Pathogenicity Calculator: A configurable system for assessing pathogenicity of genetic variants Article Full-text available Jan 2017 Ronak Y. Patel Neethu Shah Andrew R. Jackson
- Challenges in understanding common disease
- ClinGen Pathogenicity Calculator: a configurable system for
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The design, implementation, and initial testing of the Clinical Genome Resource (ClinGen) Pathogenicity Calculator is described, a configurable system and web service for the
ClinGen Pathogenicity Calculator: a configurable system for assessing pathogenicity of genetic variants Analysis of epigenetic changes in survivors of preterm birth reveals the effect of Download scientific diagram | Four-panel interface for the ClinGen Pathogenicity Calculator from publication: ClinGen Pathogenicity Calculator: A configurable system for assessing All the services working behind the Pathogenicity Calculator are accessible via Application Programming Interfaces (APIs), making it possible to integrate with existing variant curation
Challenges in understanding common disease
ClinGen Pathogenicity Calculator: a configurable system for assessing pathogenicity of genetic variants A Comprehensive Study of Disease-Causing Variants in PAH, QDPR, PTS, and PCD Results: In this report, we describe the design, implementation, and initial testing of the Clinical Genome Resource (ClinGen) Pathogenicity Calculator, a configurable system and web service ClinGen Pathogenicity Calculator: a configurable system for assessing pathogenicity of genetic variants Analysis of epigenetic changes in survivors of preterm birth reveals the effect of
ClinGen Pathogenicity Calculator: a configurable system for assessing pathogenicity of genetic variants Analysis of epigenetic changes in survivors of preterm birth reveals the effect of In silico methods for predicting functional synonymous variants Novel synonymous and missense variants in FGFR1 causing Hartsfield syndrome Evolutionary Diagnosis of non-synonymous
Results: In this report, we describe the design, implementation, and initial testing of the Clinical Genome Resource (ClinGen) Pathogenicity Calculator, a configurable system and web service The system allows users to enter the applicable ACMG/AMP-style evidence tags for a specific allele with links to supporting data for each tag and generate guideline-based pathogenicity ClinGen Pathogenicity Calculator: a configurable system for assessing pathogenicity of genetic variants Analysis of epigenetic changes in survivors of preterm birth reveals the effect of
ClinGen Pathogenicity Calculator: a configurable system for assessing pathogenicity of genetic variants Molecularly and clinically related drugs and diseases are enriched in phenotypically Results In this report, we describe the design, implementation, and initial testing of the Clinical Genome Resource (ClinGen) Pathogenicity Calculator, a configurable system and web service
ClinGen Pathogenicity Calculator: a configurable system for assessing pathogenicity of genetic variants Allelic Polymorphism of Anthrax Pathogenicity Factor Genes as a Means of Estimating
Gene-specific machine learning for pathogenicity prediction of rare BRCA1 and BRCA2 missense variants ClinGen Pathogenicity Calculator: a configurable system for assessing pathogenicity
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