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.
We have outlined the framework for such a process in a 2012 Clinical Genetics article (PMID: 22097934).
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
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.
Please contact a coordinator if you have questions.
Erin Rooney Riggs, MS, CGC
eriggs@geisinger.edu
Kelly Toner, MA
ktoner1@geisinger.edu
Erin Rooney Riggs, MS, CGC
eriggs@geisinger.edu
Kelly Toner, MA
ktoner1@geisinger.edu
