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ClinVar Variant Interpretation

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Matthew Brush edited this page Jul 11, 2017 · 2 revisions

Coming soon . . .

Updated Pages

Introduction

  1. Home
  2. Overview
  3. Use Cases
  4. The SEPIO Framework

Framework Components

  1. SEPIO Core Ontology
  2. SEPIO Information Model
  3. SEPIO Profiles
  4. SEPIO Value Sets

Core Concept Pages

  1. Core Concept Home
  2. Evidence Lines

Data Examples

  1. Gene Ontology Annotation
  2. CIViC Variant Interpretation
  3. ClinGen-ACMG Variant Interpretation

Profile Implementations

  1. ClinGen-ACMG Profile
  2. GO Annotation Profile

Obsolete Pages

Core Concepts (obsolete)

  1. Information Content Entities
  2. Assertion
  3. Evidence Item
  4. Evidence Line
  5. Activity
  6. Agent
  7. Contribution
  8. Statements
  9. Proposition 10: Concept-Attribute Tables

Data Examples (obsolete)

  1. ZFIN G2P Association
  2. IMPC G2P Association
  3. CIViC Variant Interpretation
  4. ClinVar Variant Interpretation
  5. ClinGen Variant Interpretation
  6. Panepinto et al. Publication
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