About: Prospective avenues for human population genomics and disease mapping in southern Africa

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An Entity of Type : schema:ScholarlyArticle, within Data Space : covidontheweb.inria.fr associated with source document(s)

Attributes	Values
type	Academic Article research paper schema:ScholarlyArticle
isDefinedBy	Covid-on-the-Web dataset
has title	Prospective avenues for human population genomics and disease mapping in southern Africa
Creator	Gerald Van Eeden, · Möller, Marlo Sparks, · Swart, Yolandi Uren, Caitlin
Source	PMC
abstract	Population substructure within human populations is globally evident and a well-known confounding factor in many genetic studies. In contrast, admixture mapping exploits population stratification to detect genotype–phenotype correlations in admixed populations. Southern Africa has untapped potential for disease mapping of ancestry-specific disease risk alleles due to the distinct genetic diversity in its populations compared to other populations worldwide. This diversity contributes to a number of phenotypes, including ancestry-specific disease risk and response to pathogens. Although the 1000 Genomes Project significantly improved our understanding of genetic variation globally, southern African populations are still severely underrepresented in biomedical and human genetic studies due to insufficient large-scale publicly available data. In addition to a lack of genetic data in public repositories, existing software, algorithms and resources used for imputation and phasing of genotypic data (amongst others) are largely ineffective for populations with a complex genetic architecture such as that seen in southern Africa. This review article, therefore, aims to summarise the current limitations of conducting genetic studies on populations with a complex genetic architecture to identify potential areas for further research and development.
has issue date	2020-05-21(xsd:dateTime)
bibo:doi	10.1007/s00438-020-01684-8
bibo:pmid	32440765
has license	no-cc
sha1sum (hex)	d0055698ce5cdaede1c6e091dba097a113874c9e
schema:url	https://doi.org/10.1007/s00438-020-01684-8
resource representing a document's title	Prospective avenues for human population genomics and disease mapping in southern Africa
has PubMed Central identifier	PMC7240165
has PubMed identifier	32440765
schema:publication	Mol Genet Genomics
resource representing a document's body	covid:d0055698ce5cdaede1c6e091dba097a113874c9e#body_text
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