Beta release of the BCH Aggregator - January 18, 2023

    We're excited to announce the beta release of the BCH Aggregator! Developed in a collaboration between the Children's Rare Disease Cohorts (CRDC), Dr. Jason Flannick (Broad Institute) and the Manton Center, Aggregator is a tool for analyzing genomic data collected across Boston Children's Hospital. This integrated database of whole exome sequencing data and clinical phenotypes has a web portal for visualization and exploration.

The de-identified aggregate resource allows users to investigate:

    1) how many individuals have variants at a specific locus of interest, 

    2) which phenotypes those individuals have, and

    3) the name of the investigator who originally consented the patients.

    This facilitates preparatory-to-research queries of both data with broad consent and with disease-restricted consent and can help build collaborations. In addition, the Aggregator provides statistics for phenotype-specific burden tests of variants in genes, for a collection of relevant HPO terms. BCH Aggregator currently has data for 6,600 individuals (34% are affected), and will grow to more than 15,000 individuals with the full production rollout soon (which will also include a transition from hg19 to hg38). This tool is available to all BCH researchers with CITI training and can be accessed by submitting a request for access.