Fundamentals of Clinical Genome Analysis for Rare Disease
A hands-on workshop on the analysis of WGS/WES data to diagnose rare disease
Fundamentals of Clinical Genome Analysis for Rare Disease
New dates in 2024 will be announced soon!
Fundamentals of Clinical Genome Analysis for Rare Disease is a six-week interactive online program taught by Jeanette McCarthy, a genome scientist and internationally-recognized precision medicine educator. The program is aimed at understanding and putting into practice the art and science of interpreting the genomes of rare disease cases.
As genetic testing for rare diseases becomes a more routine part of clinical practice, there is an increased demand for laboratory personnel capable of interpreting data generated from whole genome/exome sequencing (WGS/WES).
Who should consider this program
- Variant scientists with little to no experience with WGS/WES for rare disease
- Genetic counselors, other genetics professionals
- Masters and PhD level human geneticists
- Healthcare providers with a foundational understanding of genomics
- Bioinformaticians with a strong foundational understanding of genomics
What this program covers
- Fundamental concepts of Mendelian disease
- Methods and approaches used to interpret whole genome/exome data
- Latest databases and tools used for genome interpretation
- Best practices for interpretation and reporting of variants
- Overview of ACMG variant classification guidelines for SNVs
- Overview of ACMG guidelines for interpretation of CNVs
- Drafting clinical reports
Structure of the program
This program provides a hands-on, interactive learning experience
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Sessions will meet via zoom, twice weekly for 90 minutes each
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Each session will include lecture, review of homework exercises and time for Q&A
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Weekly homework exercises put teachings into practice
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Weekly readings support the lecture materials
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Links to additional video tutorials on certain topics accomodate learners who want to dig deeper
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Twice weekly office hours provide additional opportunities for live interaction with instructor
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Moderated discussion forum provides opportunity to interact with fellow students and course leader
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Committment: about 6-8 hours per week
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Certificate provided upon successful completion of program
Program curriculum
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Background Mendelian diseases
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Next generation sequencing
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Characteristics of Mendelian disease-causing variants
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Evaluating candidate variants for pathogenicity
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Evaluating candidate genes for inheritance match
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Evaluating candidate genes for phenotype match
About this program
- $1,499.00
- Live zoom lectures twice weekly
- Access to program materials for up to 3 months after program ends
- Live office hours, online discussion forum
Instructor
Founder, Precision Medicine Advisors Jeanette McCarthy, PhD
Jeanette McCarthy is a genetic epidemiologist with over 30 years of experience in the field of genomics and precision medicine, working in both academia and industry. She has experience in basic genetic research as well as implementation sciences, developing clinical products and genome interpretation services to support the clinical lab industry. She is an internationally-recognized leading educator in precision medicine. Jeanette launched the first massively open online course (MOOC) on genomic and precision medicine through Coursera in 2014, reaching tens of thousands of learners across the globe. She continued on that mission, launching Precision Medicine Academy in 2017. Through the Academy and her consulting business, Precision Medicine Advisors, Jeanette works to build capacity for implementing precision medicine globally.
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The information provided through this program is for educational purposes only and is not meant to substitute for the independent medical judgment of a physician relative to diagnostic and treatment options of a specific patient's medical condition.
All materials are copyrighted. Republication or redistribution of PMA content is prohibited without prior written consent. PMA shall not be liable for any errors or delays in the content, or for any actions taken in reliance thereon.