Data Collection

Commitment to depositing data from curation efforts to a common repository

The American Society of Hematology is also committed to the understanding of inherited genomic profiles that predispose individuals to hematologic malignancies. As such, the Society has partnered with the Clinical Genome Resource to curate variants in genes (such as RUNX1 and GATA2) that are involved in predisposition to myeloid malignancies. Predisposition syndromes often manifest in children or young adults. Data collection as a result of this effort will lead to the deposition of high-quality annotated variants to a public resource (ClinVar) where other researchers will be able to benefit from these findings. More variants known to affect the pediatric population should be submitted to this common resource.

 

The National Cancer Institute should encourage efforts from organizations and individual laboratories to deposit their variant curation results to this repository. Bulk, rapid submission of variants to ClinVar with tissue information and clinical diagnosis should be supported beyond current processes.

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Idea No. 979