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Overview of curation and resources to facilitate genetic analysis for rare disease

Date: Tue, Apr 21 2026, 4:30pm - 6pm

Organised by: Marina DiStefano, PhD FACMG

Affiliation/Institution: The Broad Institute of MIT and Harvard; ClinGen

Overview:

In this workshop, participants will learn about, and have hands-on experience with, new or newly updated resources that can aid in the interpretation of genomic data. With exome and genome sequencing becoming more commonplace in genetic diagnostics, the burden of gene and variant interpretation is substantial for research and clinical laboratories. However, resources have been developed to reduce this interpretation burden, but many of them are new, recently updated, or otherwise not well understood by the genetics community. This workshop seeks to inform the genetics community about new or updated resources to facilitate gene curation and variant interpretation in a variety of contexts. The workshop will consist of an overview of gene and variant curation and will culminate with putting this together for genetic analysis of exomes and genomes. Along the way, critical resources such as the GenCC database, gnomAD, ClinGen, and ClinVar will be covered. Case examples that will teach the practical applications of each. This will be beneficial to participants because overviews combined with practical examples will likely mimic daily workflows and cement understanding of each resource for future use.

Objectives:

  1. Gain insights into exome/genome analysis and its strengths and limitations
  2. Understand the need for gene-disease validity curation in the variant curation process
  3. Variant classification using ACMG/AMP guidelines
  4. Discuss strategies for use of and submission to ClinVar
  5. Examine challenges and opportunities for creating global resources to support variant classification

Learning Outcomes:

  1. Understand the need to evaluate gene-disease validity and dosage sensitivity in order to accurately assess variant pathogenicity
  2. Explain how to apply information in genomic resources (e.g. gnomAD and GenCC) to exome and genome analysis
  3. Apply the guidelines and best practices for variant and gene curation
  4. Compare and contrast resources to support gene and variant interpretation

Target Audience:

The target audience for this workshop is genomic researchers as well as clinical laboratory and medical genetics professionals (laboratory geneticists, physician geneticists, genetic counselors).

Prerequisites:

  1. While not required, a basic understanding of data curation and genetic analysis (e.g. HGVS nomenclature, analysis tools) will be beneficial for the talks in this workshop.
  2. Willingness to actively participate in discussions on curation practices and genomic analysis resource use.

Capacity: TBA

Waiting List

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