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Mahjoubeh Jalali Sefid Dashti


Mahjoubeh Jalali Sefid Dashti

University of the Western Cape, South Africa

Biography

Mahjoubeh Jalali Sefid Dashti has completed her PhD in the field of Bioinformatics at the South African National Bioinformatics Institute, University of Western Cape and is currently continuing with her Post-doctoral studies at the same Institute. Her research interest lies in biomarker discovery through the application of clinical next generation sequencing in identifying the genetic cause of multifactorial and rare disorders. She is involved in a number of groundbreaking research projects including distal muscular dystrophy, ALS-motor neuron disease, Myasthenia Gravis, post-traumatic stress disorder, maturity onset diabetes of the young and atypical breast cancer in Africans.

Abstract

Abstract : Application of clinical exome sequencing and semantic knowledge base approach identifies potential causative variants in a family pedigree with atypical autosomal dominant distal muscular dystrophy