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PRBB-CRG Sessions Ernest Turro

PRBB-CRG Sessions Ernest TurroPRBB-CRG Sessions Ernest Turro

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PRBB-CRG Sessions Ernest Turro


18/06/202116:00OnlinePRBB-CRG SessionsErnest TurroMount Sinai. New York, US"Whole-genome Sequencing of Rare Disease Patients in a National Healthcare System"Host: Jorge FerrerAbstract:I will first describe two statistical association methods for identifying the genetic determinants of rare diseases from whole-genome sequencing (WGS) and clinical phenotyping data. I will then present the analysis of WGS data from 13,000 rare disease patients enrolled in the NIHR BioResource-Rare Diseases. I will touch on approaches we have applied successfully for identifying non-coding pathogenic variants in regulatory elements of the genome. Finally, I will present an analysis of WGS data from the NIHR and Genomics England suggesting that germline selection shapes human mitochondrial DNA diversity.

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