Ben Weisburd

Computational Scientist · Broad Institute · company speakers →

Ben Weisburd is a computational scientist at the Broad Institute with the department of Medical and Population Genetics. He primarily works of the analysis of tandem repeats within rare disease datasets and population datasets including gnomAD. He is particularly interested in improving methods for analyzing underexplored sequence-level features of TR variation such as interruptions and motif composition. Notable contributions related to STRs include the addition of an STR callset to the gnomAD browser, establishing the Broad's pipeline for rare disease analysis of both known and novel disease-loci, publication of an STR truth set in [Weisburd et al. 2023], and the discovery of a strong candidate for a novel CAG repeat locus that causes cerebellar ataxia.

pharma-biotechhealthcare-servicesclinical-laboratorymedical-devices

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Speaking history

ACMG Annual Clinical Genetics Meeting

13 April 2027 Minneapolis, United States

Topics this speaker covers

pharma-biotechhealthcare-servicesclinical-laboratorymedical-devices

Sectors

healthcare_medtech_pharma

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