Evidence map›Paper›PMID 22483647›Full record

ReviewTrends in genetics : TIG2012

Exploring the role of copy number variants in human adaptation.

Rebecca C Iskow, Omer Gokcumen, Charles Lee

Abstract readReview
In one paragraph

Review in Trends in genetics : TIG, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 81 papers.

0numbers the graph read from it
0cells of the map it votes in
81citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

81 citing papers in PubMed.

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  12. Nanopore sequencing of PCR products enables multicopy gene family reconstruction.Computational and structural biotechnology journal · 2023
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21 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

3 authors.

Rebecca C IskowDepartment of Pathology, Brigham and Women's Hospital, Boston, MA 02115, USA.
Omer Gokcumen
Charles Lee

Funding

Characterization and Evolution of Copy Number Variation Among PrimatesR01GM081533 · NIGMS · BRIGHAM AND WOMEN'S HOSPITAL · PI LEE, CHARLES · 2008 to 2011
$1.6M
The Role of Somatic Copy Number Changes in AgingF32AG039979 · NIA · BRIGHAM AND WOMEN'S HOSPITAL · PI TORENE, REBECCA I · 2011 to 2013
$76k
NIA NIH HHS F32 AG 039979NIA NIH HHS F32 AG039979NIGMS NIH HHS R01 GM081533NIGMS NIH HHS R01 GM0851533-04
6 · The paper itself

Abstract

Over the past decade, the ubiquity of copy number variants (CNVs, the gain or loss of genomic material) in the genomes of healthy humans has become apparent. Although some of these variants are associated with disorders, a handful of studies documented an adaptive advantage conferred by CNVs. In this review, we propose that CNVs are substrates for human evolution and adaptation. We discuss the possible mechanisms and evolutionary processes in which CNVs are selected, outline the current challenges in identifying these loci, and highlight that copy number variable regions allow for the creation of novel genes that may diversify the repertoire of such genes in response to rapidly changing environments. We expect that many more adaptive CNVs will be discovered in the coming years, and we believe that these new findings will contribute to our understanding of human-specific phenotypes.

Indexed as

Adaptation, BiologicalDNA Copy Number VariationsAnimalsEvolution, MolecularHumansPhenotypeSelection, Genetic

Identifiers

PMID22483647
PMCPMC3533238

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.