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Author: Andrea Oza

Many individuals and families with genetic disorders are all too familiar with the concept of a “diagnostic odyssey”. It refers to the long and arduous journey to find a...

Author: Marina DiStefano

Genome sequencing has opened opportunities for detecting multiple variant types across the genome with a single technology. Previously, BCL has tackled evaluating copy number variant (CNV) detection from genome...

By: James T. Webber, Daniel A. Bartlett, Ghamdan Al-Eryani, Aziz Al'Khafaji

The Methods Development Lab (MDL) of Broad Clinical Labs is always looking to innovate on the latest genomics technologies. One promising new approach is from Fluent BioSciences for single-cell...

By: Yueyao Gao and Mark Fleharty

We are interested in evaluating the CNV calling capabilities of the latest available DRAGEN™ version with an eye toward future validation and inclusion in Broad’s existing clinical WGS pipeline....
The Broad Institute’s Clinical Research Sequencing Platform is now Broad Clinical Labs (BCL)! BCL aims to accelerate the understanding, diagnosis, and treatment of disease......
The Broad Institute has >25 years of experience in executing large-scale genomics projects to accelerate discovery in biomedical research....