Ben Weisburd, BS
Ben is a Principal Software Engineer working on developing methods for interpreting DNA sequencing data in the context of severe Mendelian diseases. He is the lead developer for the seqr rare disease analysis platform and related projects.
Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity.
Nature. 2017;544(7649):235-239 - PMID: 28406212
The ExAC browser: displaying reference data information from over 60 000 exomes.
Nucleic Acids Res. 2016;:ePub - PMID: 27899611
Analysis of protein-coding genetic variation in 60,706 humans.
Nature. 2016;536(7616):285-91 - PMID: 27535533