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ASHG TV 2018

WebsEdge/Health presents ASHG TV 2018. Highlights and conference news from The American Society of Human Genetics (ASHG) Annual Meeting - Sharing Discoveries. Shaping our Future. The meeting will be held October 16-20 in San Diego.

H3ABioNet - Pan African Bioinformatics Network for H3Africa

Mapping the Genome of Earth's Oldest Population

As the cost of genetic testing has decreased, the possibility of a more targeted, precise approach to medicine is becoming a reality. However not all populations receive the same level of attention in the kinds of essential studies which this requires. In 2010 the African Society of Human Genetics, the National Institutes of Health and the Wellcome Trust began the Human Heredity & Health in Africa initiative – or H3Africa to meet the growing need for more research into the genetics of African populations. Soon after, a network of bioinformatics researchers across Africa, led by the University of Cape Town, took up the challenge of building the necessary capacity for genomics research in the continent, and H3ABioNet was formed. H3ABioNet’s goal is to bring together the technologies, the data storage ability, as well as the expertise to bring about the next generation of African genomics. Identifying the need for a genotyping array that better suits the specific make-up of the African genome, H3ABioNet oversaw the development of a new chip that caters to its unique features – such as smaller haplotype blocks, and higher average numbers of variant SNP sites. With the support of Illumina, this chip is now in use across the continent, including at Cape Town’s Centre for Proteomic & Genomic Research. With the rapid increase in data on the African genome, H3ABioNet is also working to establish the computing power and data storage to process it. After initial collaboration with Blue Waters at the University of Illinois at Urbana-Champaign – who continue to act as an international node for H3ABioNet – researchers worked with Cape Town’s astronomers to build a data center on site at the University. H3ABioNet is also working to train the next generation of genomic scientists through frequent training sessions that can be accessed from across the continent. Using bespoke conferencing facilities, trainees are able to join the sessions everywhere from Tunisia to South Africa, Morocco to the Sudan, and get to grips with the latest in genomic data management and analysis. The network is facilitating a wide range of studies providing unique insights into the African genome. African PIs are working to understand better the kinds of diseases that impact African populations, from sickle cell disease, to hearing impairment. These gains will allow much better treatment for those with African genetics all over the world. At the same time, H3ABioNet is empowering African scientists to analyse their own genetic data and shift the leadership of African science back to the continent.

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