PRBB – CRG Sessions: Whole-genome Sequencing of Rare Disease Patients in a National Healthcare System

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Speaker: Ernest Turro, Mount Sinai. New York, US

Host: Jorge Ferrer, Coordinator, Medical Genomics Transversal Programme, CRG

It will be first described two statistical association methods for identifying the genetic determinants of rare diseases from whole-genome sequencing (WGS) and clinical phenotyping data. Then, it will be presented the analysis of WGS data from 13,000 rare disease patients enrolled in the NIHR BioResource-Rare Diseases.

It will be touched on approaches, Turro’s group have applied successfully for identifying non-coding pathogenic variants in regulatory elements of the genome. Finally, it will presented an analysis of WGS data from the NIHR and Genomics England suggesting that germline selection shapes human mitochondrial DNA diversity.


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