exome sequencing – News, Research and Analysis – The Conversation

Articles on exome sequencing

May 31, 2017

How genomic techniques can pin down rare genetic diseases more quickly

Craig Kinnear, Stellenbosch University; Brigitte Glanzmann, Stellenbosch University; Eileen Hoal, Stellenbosch University; Marlo Möller, Stellenbosch University; Michael Urban, Stellenbosch University; Monika Esser, Stellenbosch University, and Nikola Schlechter, Stellenbosch University

The advent of genetic technologies has been reducing the time and cost attached to diagnosing rare genetic diseases.

March 22, 2017

Bongani Mayosi, University of Cape Town

The discovery of a rare gene is twofold, and has a scientific and clinical impact in the fight against heart muscle disease.

August 15, 2013

New genetic mutations which cause severe epilepsy have been identified. Analysing 4,000 genomes from epilepsy patients, two…

Bongani Mayosi
Dean and Professor of Medicine at the Faculty of Health Science, University of Cape Town
Craig Kinnear
Specialist Scientist, Tuberculosis Host Genetics, Division of Molecular Biology and Human Genetics, Department of Biomedical Sciences, Stellenbosch University
Eileen Hoal
Professor in the Division of Molecular Biology and Human Genetics in Department of Biomedical Sciences, Stellenbosch University
Brigitte Glanzmann
Postdoctoral fellow in the Division of Molecular Biology and Human Genetics, Department of Biomedical Sciences, Stellenbosch University
Michael Urban
Head of the Clinical Unit of Medical Genetics and Genetic Counselling, Stellenbosch University
Monika Esser
Specialist Rheumatologist, Senior Lecturer in Paediatrics and Child Health, Stellenbosch University
Nikola Schlechter
Post-doctoral research fellow in the division of Molecular Biology and Human Genetics, Stellenbosch University
Marlo Möller
Researcher in the Division of Molecular Biology and Human Genetics, Stellenbosch University