Strengthening human genetics research in Africa: report of the 9th meeting of the African Society of Human Genetics in Dakar in May 2016

Diallo, Rokhaya Ndiaye; Gadji, Macoura; Hennig, Branwen J.; Gueye, Mamour; Gaye, Amadou Thierno; Diop, Jean Pascal Demba; Niang, Maguette Sylla; Sall, Philomène Lopez; Gueye, Pape Madieye; Dem, Ahmadou; Faye, Omar; Diéye, Amadou Moctar; Cissé, A; Sembène, M; Ka, Sidy; Diop, N.; Williams, Scott M.; Matovu, Enock; Ramesar, Raj; Wonkam, Ambroise; Newport, Melanie J.; Rotimi, Charles; Ramsay, Michèle

doi:10.1017/gheg.2017.3

Cited by 6 publications

(2 citation statements)

References 7 publications

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“…Fortunately, the number of genomic researchers in Africa is on the rise, which has led to an increase in African genomic data and publications (The H3Africa Consortium, 2014; Uthman et al, 2015; Mulder et al, 2016; Ndiaye Diallo et al, 2017). The increase in African genomic research has the potential to narrow the research gap between Africa and the rest of the world and can also improve implementation of genomic medicine.…”

Section: Current Challenges Of Wes/wgs Data Interpretation In Africansmentioning

confidence: 99%

Dissecting in silico Mutation Prediction of Variants in African Genomes: Challenges and Perspectives

et al. 2019

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Genomic medicine is set to drastically improve clinical care globally due to high throughput technologies which enable speedy in silico detection and analysis of clinically relevant mutations. However, the variability in the in silico prediction methods and categorization of functionally relevant genetic variants can pose specific challenges in some populations. In silico mutation prediction tools could lead to high rates of false positive/negative results, particularly in African genomes that harbor the highest genetic diversity and that are disproportionately underrepresented in public databases and reference panels. These issues are particularly relevant with the recent increase in initiatives, such as the Human Heredity and Health (H3Africa), that are generating huge amounts of genomic sequence data in the absence of policies to guide genomic researchers to return results of variants in so-called actionable genes to research participants. This report (i) provides an inventory of publicly available Whole Exome/Genome data from Africa which could help improve reference panels and explore the frequency of pathogenic variants in actionable genes and related challenges, (ii) reviews available in silico prediction mutation tools and the criteria for categorization of pathogenicity of novel variants, and (iii) proposes recommendations for analyzing pathogenic variants in African genomes for their use in research and clinical practice. In conclusion, this work proposes criteria to define mutation pathogenicity and actionability in human genetic research and clinical practice in Africa and recommends setting up an African expert panel to oversee the proposed criteria.

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Section: Current Challenges Of Wes/wgs Data Interpretation In Africansmentioning

confidence: 99%

Dissecting in silico Mutation Prediction of Variants in African Genomes: Challenges and Perspectives

et al. 2019

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“…The African Society of Human Genetics (http://www.afshg.org) was founded in 2003 with the goal of building capacity among African researchers and institutions to create an infrastructure that could support and sustain human genetics on the continent. It currently has seven country-specific member societies of human genetics and aims to hold annual scientific meetings, with venues that rotate across the continent (115). However, it is noticeable that the discipline of human genetics is not formally recognized in the majority of African countries, and there are few training programs and little support for genetic practitioners.…”

Section: Clinical Implications: Diagnosis and Treatment Of Monogenic ...mentioning

confidence: 99%

Common and Founder Mutations for Monogenic Traits in Sub-Saharan African Populations

Krause

Seymour

Ramsay

2018

Annu. Rev. Genom. Hum. Genet.

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This review highlights molecular genetic studies of monogenic traits where common pathogenic mutations occur in black families from sub-Saharan Africa. Examples of founder mutations have been identified for oculocutaneous albinism, cystic fibrosis, Fanconi anemia, and Gaucher disease. Although there are few studies from Africa, some of the mutations traverse populations across the continent, and they are almost all different from the common mutations observed in non-African populations. Myotonic dystrophy is curiously absent among Africans, and nonsyndromic deafness does not arise from mutations in GJB2 and GJB7. Locus heterogeneity is present for Huntington disease, with two common triplet expansion loci in Africa, HTT and JPH3. These findings have important clinical consequences for diagnosis, treatment, and genetic counseling in affected families. We currently have just a glimpse of the molecular etiology of monogenic diseases in sub-Saharan Africa, a proverbial "ears of the hippo" situation.

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African genetic diversity and adaptation inform a precision medicine agenda

et al. 2021

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Strengthening human genetics research in Africa: report of the 9th meeting of the African Society of Human Genetics in Dakar in May 2016

Cited by 6 publications

References 7 publications

Dissecting in silico Mutation Prediction of Variants in African Genomes: Challenges and Perspectives

Dissecting in silico Mutation Prediction of Variants in African Genomes: Challenges and Perspectives

Common and Founder Mutations for Monogenic Traits in Sub-Saharan African Populations

African genetic diversity and adaptation inform a precision medicine agenda

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