On Thursday September 14, Dr. Paul Titchenell will present a seminar, "Redefining the Role of AKT Signaling in Muscle Growth and Metabolism".

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

This video introduces the Neurodegenerative Disease Knowledge Portal which is developed by the Broad Institute in collaboration with the Montreal Neurological Institute-Hospital and the Global Parkinson’s Genetics Program.

    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: