Journal
SCIENCE
Volume 349, Issue 6253, Pages -Publisher
AMER ASSOC ADVANCEMENT SCIENCE
DOI: 10.1126/science.aab3761
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Funding
- National Cancer Institute, NIH [HHSN26120080001E]
- NIH, National Cancer Institute, Center for Cancer Research
- NIH [2R01HG002385, 5DP1ES022577 05, 1R01DK104339-01, 1R01GM113657-01]
- Paul G. Allen Family Foundation [11631]
- Simons Foundation [SFARI 280376]
- HOMINID grant from the NSF [BCS-1032255]
- European Research Council [FP7 - 26213]
- Ministry of Education and Science, Russian Federation [14.Z50.31.0010]
- Estonian Research Council [IUT24-1]
- European Regional Development Fund (European Union) through the Centre of Excellence in Genomics
- University of Tartu
- Wellcome Trust [098051]
- NSF [0924726, 1153911]
- Direct For Social, Behav & Economic Scie
- Division Of Behavioral and Cognitive Sci [0924726] Funding Source: National Science Foundation
- Division Of Behavioral and Cognitive Sci
- Direct For Social, Behav & Economic Scie [1153911, 1032255] Funding Source: National Science Foundation
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In order to explore the diversity and selective signatures of duplication and deletion human copy-number variants (CNVs), we sequenced 236 individuals from 125 distinct human populations. We observed that duplications exhibit fundamentally different population genetic and selective signatures than deletions and are more likely to be stratified between human populations. Through reconstruction of the ancestral human genome, we identify megabases of DNA lost in different human lineages and pinpoint large duplications that introgressed from the extinct Denisova lineage now found at high frequency exclusively in Oceanic populations. We find that the proportion of CNV base pairs to single-nucleotide-variant base pairs is greater among non-Africans than it is among African populations, but we conclude that this difference is likely due to unique aspects of non-African population history as opposed to differences in CNV load.
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