Dosage Sensitivity Curation

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.


Leadership

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


Membership

Membership in this committee spans many fields, including genetics, medical, academia, and industry. [View Members]
For more information, please contact:

Erin Rooney Riggs, MS, CGC
eriggs@geisinger.edu

Kelly Toner, MA
ktoner1@geisinger.edu