ESPEYB17 14. The Year in Science and Medicine (1) (16 abstracts)
14.4. Insights into human genetic variation and population history from 929 diverse genomes
Bergström A , McCarthy SA , Hui R , Almarri MA , Ayub Q , Danecek P , Chen Y , Felkel S , Hallast P , Kamm J , Blanché H , Deleuze JF , Cann H , Mallick S , Reich D , Sandhu MS , Skoglund P , Scally A , Xue Y , Durbin R & Tyler-Smith C
To read the full abstract: Science 2020; 367(6484):eaay5012.
These authors sequenced 929 whole-genome sequences from 54 geographically, linguistically, and culturally diverse human populations, as part of the Human Genome Diversity Project, a panel of global populations. The data represent African, Oceanian, and American-Indian populations. They identified 67.3 million single-nucleotide polymorphisms (SNPs), 8.8 million small insertions or deletions (indels), and 40,736 copy number variants (CNVs). These include hundreds of thousands of variants that had not been discovered by previous sequencing efforts, but which are common in one or more population.
Genome sequences from diverse human groups reveals the architecture of genetic variation in our species and also the history of, and relationships between, different populations. They also provide a framework for the design and interpretation of medical genetics studies. Previous large-scale genome-sequencing efforts have been restricted to large, metropolitan populations and used low-coverage sequencing, whereas those sampling human groups more widely have mostly been limited to one to three genomes per population. Here, they present 929 high-coverage genome sequences from 54 diverse populations, only 142 of which were previously sequenced.
Populations in central and southern Africa, the Americas, and Oceania each harbor tens to hundreds of thousands of private, common genetic variants, mostly arising as new mutations. They estimate that the genetic separation between present-day human populations occurred mostly within the past 250,000 years and was shaped by protracted gene flow. Unexpectedly, African populations share many Neanderthal and Denisovan variants that are absent from Eurasia.
The authors conclude that low diversity among the Neanderthal haplotypes in present-day populations indicates that more than one Neanderthal individual contributed genetic material to modern humans, but there was only one major episode of admixture. By contrast, Denisovan haplotype involves more than one episode of admixture.
The results indicate that diversity resulted from differences at the single-nucleotide level rather than copy number variation. They find ancestral genetic variation in African populations that likely predates modern humans and has been lost in most non-African populations.
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ESPE Yearbook of Paediatric Endocrinology
ISSN 1662-4009 (Online)
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