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SGUL - Interpreting Genomic Variation: Fundamental Principles 

  • Offered byFutureLearn

Interpreting Genomic Variation: Fundamental Principles
 at 
FutureLearn 
Overview

Duration

3 weeks

Total fee

₹8,814

Mode of learning

Online

Credential

Certificate

Interpreting Genomic Variation: Fundamental Principles
Table of content
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  • Overview
  • Highlights
  • Course Details
  • Curriculum

Interpreting Genomic Variation: Fundamental Principles
 at 
FutureLearn 
Highlights

  • Earn a certificate of completion from Futurelearn
Details Icon

Interpreting Genomic Variation: Fundamental Principles
 at 
FutureLearn 
Course details

More about this course
  • This course is designed to educate health professionals involved in the variant journey from the laboratory to the patient
  • You'll explore the fundamental principles of variant interpretation and review the American College of Clinical Genetics and Genomic (ACMG) and The Association for Clinical Genomic Science (AGCS) guidelines
  • You will also take a detailed look at the tools available to aid genomic variant interpretation
  • You'll explore how the ACMG evaluated each of the tools and applied a weighting, as well as the algorithm developed to combine the evidence from each of these tools
  • You'll be encouraged to apply your learning through workshopped examples that illustrate both the strengths and weaknesses of the ACMG tools and framework

Interpreting Genomic Variation: Fundamental Principles
 at 
FutureLearn 
Curriculum

Introduction to genomic variation and population data

Introduction to course

Normal Genetic Variation

Changing technologies

Variant classification

Tools for variant interpretation: Population databases

Tools for genomic variant interpretation

Welcome to week 2

Tools for genomic variant interpretation: Computation and predictive data

Tools for genomic variant interpretation: Functional data

Tools for genomic variant interpretation: Reputable databases

Tools for variant interpretation: Phenotyping and literature searches

Ethics of genomic variant interpretation

Clinical genomic variant interpretation

Welcome to week 3

ACMG & ACGS guidelines

VUS multidisciplinary meetings

Genomic variant interpretation in practice

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Interpreting Genomic Variation: Fundamental Principles
 at 
FutureLearn 

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