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Shahid Aziz Mian


Shahid Aziz Mian

King Fahad Medical City, Saudi Arabia

Biography

Shahid Mian is a Consultant Clinical Research Scientist, PhD within the Department of Pathology and Clinical Laboratory Medicine (PCLM) at King Fahad Medical City (KFMC), Saudi Arabia. PCLM is a College of American Pathologists (CAP) accredited laboratory. He has responsibility for establishing bioinformatic and variant reporting pipelines for the clinical exome analysis of paediatric patients with suspected inherited disorders. He has reviewed over 500 clinical exome reports produced by third party laboratories for PCLM, independently reported over 100 patient exome results to KFMC physicians and analysed over 1300 exomes bioinformatically.

Abstract

Abstract : Clinical exome sequencing of patients from a highly consanguineous population: Novel pathogenic variants impacting neurological function