Literature DB >> 34740451

Advances in integrative African genomics.

Chao Zhang1, Matthew E B Hansen1, Sarah A Tishkoff2.   

Abstract

There has been a rapid increase in human genome sequencing in the past two decades, resulting in the identification of millions of previously unknown genetic variants. However, African populations are under-represented in sequencing efforts. Additional sequencing from diverse African populations and the construction of African-specific reference genomes is needed to better characterize the full spectrum of variation in humans. However, sequencing alone is insufficient to address the molecular and cellular mechanisms underlying variable phenotypes and disease risks. Determining functional consequences of genetic variation using multi-omics approaches is a fundamental post-genomic challenge. We discuss approaches to close the knowledge gaps about African genomic diversity and review advances in African integrative genomic studies and their implications for precision medicine.
Copyright © 2021. Published by Elsevier Ltd.

Entities:  

Keywords:  Africans; genomic diversity; integrative genomics; intermediate phenotype; omics; population-specific reference genome

Mesh:

Year:  2021        PMID: 34740451      PMCID: PMC8752515          DOI: 10.1016/j.tig.2021.09.013

Source DB:  PubMed          Journal:  Trends Genet        ISSN: 0168-9525            Impact factor:   11.639


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