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Once sequencing data is available on seqr, Broad CMG analysts will work together with collaborators using the seqr framework to identify strong candidate genes and variants. Exome and Whole Genome Sequencing DataRound one of analysis entails identifying candidate variants in known genes associated...

Accepted samples are sequenced at the Broad’s Genomics Platform. After sequencing and processing completes, our project management team will send a notification and reminder to enter in phenotype information. This will be a required step before data can be loaded onto our seqr platform. Once data is...

Collaborators are expected to provide high­ quality, appropriately consented DNA samples from patients and family members. The consent form signed by subjects must include language regarding secondary use, data sharing, and deposition into controlled access databases. See our timelines and...

Selected publications and preprints Nadig, A., Replogle, J. M., Pogson, A. N., McCarroll, S. A., Weissman, J. S., Robinson, E. B., & O'Connor, L. J. (2024). Transcriptome-wide characterization of genetic perturbations. bioRxiv, 2024-07. Salehi Nowbandegai, P.*, Wohns, A. W.*, …, Neale, B. M. & O...

The Pan Lab has created PatchAnalytics, a cloud-based web application for automated analysis of SyncroPatch Data. PatchAnalytics Contributors: Lei A. Wang, Ziyue Zhu, David Zhou, David Baez, Yining Wang The Pan Lab has created IntelliSleepScorer, a software package with a graphic user interface for...

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The Sheng lab is committed to diversity, equity and inclusion and our lab is dedicated to ensuring a welcoming and safe space for all individuals. We actively work to increase the breadth of our applicant pools to create an environment that supports and retains a richly diverse community...