Insights into human genetic variation and population history from 929 diverse genomes-Reference-Cited by-同舟云学术

Insights into human genetic variation and population history from 929 diverse genomes

Published:2020-03-20 Issue:6484 Volume:367 Page:
ISSN:0036-8075
Container-title:Science
language:en
Short-container-title:Science

Author:

Bergström Anders¹²^ORCID,McCarthy Shane A.¹³^ORCID,Hui Ruoyun³⁴^ORCID,Almarri Mohamed A.¹^ORCID,Ayub Qasim¹⁵⁶^ORCID,Danecek Petr¹^ORCID,Chen Yuan¹,Felkel Sabine¹⁷^ORCID,Hallast Pille¹⁸^ORCID,Kamm Jack¹³⁹^ORCID,Blanché Hélène¹⁰¹¹^ORCID,Deleuze Jean-François¹⁰¹¹^ORCID,Cann Howard¹⁰,Mallick Swapan¹²¹³^ORCID,Reich David¹²¹³^ORCID,Sandhu Manjinder S.¹¹⁴,Skoglund Pontus²^ORCID,Scally Aylwyn³^ORCID,Xue Yali¹,Durbin Richard¹³^ORCID,Tyler-Smith Chris¹^ORCID

Affiliation:

1. Wellcome Sanger Institute, Hinxton CB10 1SA, UK.

2. The Francis Crick Institute, London NW1 1AT, UK.

3. Department of Genetics, University of Cambridge, Cambridge CB2 3EH, UK.

4. McDonald Institute for Archaeological Research, University of Cambridge, Cambridge CB2 3ER, UK.

5. Monash University Malaysia Genomics Facility, Tropical Medicine and Biology Multidisciplinary Platform, 47500 Bandar Sunway, Malaysia.

6. School of Science, Monash University Malaysia, 47500 Bandar Sunway, Malaysia.

7. Institute of Animal Breeding and Genetics, University of Veterinary Medicine Vienna, Vienna 1210, Austria.

8. Institute of Biomedicine and Translational Medicine, University of Tartu, Tartu 50411, Estonia.

9. Chan Zuckerberg Biohub, San Francisco, CA 94158, USA.

10. Centre d’Etude du Polymorphisme Humain, Fondation Jean Dausset, 75010 Paris, France.

11. GENMED Labex, ANR-10-LABX-0013 Paris, France.

12. Department of Genetics, Harvard Medical School, Boston, MA 02115, USA.

13. Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA.

14. Department of Medicine, University of Cambridge, Cambridge CB2 0QQ, UK.

Abstract

Genomes from around the globe Genomic sequencing of diverse human populations to understand overall genetic diversity has lagged behind in-depth examination of specific populations. To add to our understanding of human genetic diversity, Bergström et al. generated whole-genome sequences surveying individuals in the Human Genome Diversity Project, which is a panel of global populations that has been instrumental in understanding the history of human populations. The authors' study adds data about African, Oceanian, and Amerindian populations and indicates that diversity tends to result from differences at the single-nucleotide level rather than copy number variation. An analysis of archaic sequences in modern populations identifies ancestral genetic variation in African populations that likely predates modern humans and has been lost in most non-African populations. Science , this issue p. eaay5012

Funder

Wellcome

Gates Cambridge Trust

Publisher

American Association for the Advancement of Science (AAAS)

Subject

Multidisciplinary

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