Dosage Sensitivity Curation

The Dosage Sensitivity Curation task team uses a systematic process by which to evaluate the evidence supporting or refuting the dosage sensitivity of individual genes and genomic regions. This information can ultimately be used to inform future cytogenomic microarray designs and clinical interpretation decisions.

Subgroups Documents Tools Membership

What is the process?

We have outlined the framework for such a process in a 2012 Clinical Genetics article (PMID: 22097934).

Riggs et al. 2012. Towards an evidence-based process for the clinical interpretation of copy number variation. Clin Genet 81(5):403-12.

How can I access the Dosage Sensitivity Map?

All of our reviews are publically available online - view the information we have compiled on completed genes, track our progress, request that a gene be evaluated, or ask us questions through the Dosage Sensitivity Map site. The information can also be downloaded in bulk via FTP, and files are updated daily.

ClinGen Dosage Sensitivity Map

FTP site for Dosage Sensitivity Map data

How can I help?

Evaluating all the genes in the genome is a monumental task, and we need your help! If you are interested in becoming involved with this committee, please contact us at clingen@clinicalgenome.org.

Chairs
Erica Andersen, PhD
Erik Thorland, PhD
Coordinators
Please contact a coordinator if you have questions.
Erin Rooney Riggs, MS, CGC
eriggs@geisinger.edu
Kelly Toner, MA
ktoner1@geisinger.edu

Subgroups

Documents

Tools & Resources

  • Dosage Sensitivity Tools
    Dosage Sensitivity Tools

    The ClinGen Dosage Sensitivity tools aid the curation process that collects evidence supporting/refuting the haploinsufficiency and triplosensitivity of genes and genomic regions

    Curations

Working Group Membership

Membership spans many fields, including genetics, medical, academia, and industry.

Chairs

Coordinators