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.
What is the process?
We have outlined the framework for such a process in a 2012 Clinical Genetics article (PMID: 22097934).
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.
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 email@example.com.
Neurodevelopmental Dosage Sensitivity Subgroup
This subgroup evaluates genes and/or genomic regions associated with neurodevelopmental disorders (intellectual disability, autism, seizures, etc.) for evidence for haploinsufficiency and triplosensitivity.About this group
Recurrent CNVs Dosage Sensitivity Subgroup
This subgroup provides curation for recurrent and non-recurrent (variable breakpoint) genomic regions associated with constitutional conditions.About this group
Hereditary Cancer Dosage Sensitivity Subgroup
This subgroup curates constitutional dosage sensitivity of genes associated with an increased risk for cancer or tumors.About this group
Towards an evidence‐based process for the clinical interpretation of copy number variationPublications - November 19, 2011
Tools & Resources
Working Group Membership
Membership spans many fields, including genetics, medical, academia, and industry.