Knowledge Portal Network
BYOR Data Pages and Portals
We are excited to announce a major update to BCH Aggregator that includes many improvements to the underlying data:
1) migration of all variant calls to reference genome build hg38
2) increase in number of individuals included from 6,596 to 17,732
3) increase in number of HPO analyzed from 23 to 73
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: