Evidence map›Paper›PMID 35047866›Full record

ArticleHGG advances2022

Genome-wide analysis of copy number variants and normal facial variation in a large cohort of Bantu Africans.

Megan Null, Feyza Yilmaz, David Astling, Hung-Chun Yu, Joanne B Cole, Benedikt Hallgrímsson, Stephanie A Santorico, Richard A Spritz, Tamim H Shaikh, Audrey E Hendricks

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in HGG advances, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
0.3field-weighted citation impact, top 32% of its field
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

4 citing papers in PubMed, 3 citations in OpenAlex.

  1. Review
  2. Review
  3. Genome-wide association testing beyond SNPs.Nature reviews. Genetics · 2025
    Review
  4. Article
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

10 authors at 4 institutions in 2 countries.

Megan NullMathematical and Statistical Sciences, University of Colorado Denver, Denver, CO, USA.
Feyza YilmazDepartment of Pediatrics, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.
David AstlingDepartment of Biochemistry and Molecular Genetics, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.
Hung-Chun YuDepartment of Pediatrics, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.
Joanne B ColeDepartment of Pediatrics, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.
Benedikt HallgrímssonDepartment of Cell Biology & Anatomy, Alberta Children Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, Alberta T2N 1N4, Canada.
Stephanie A SantoricoMathematical and Statistical Sciences, University of Colorado Denver, Denver, CO, USA.
Richard A SpritzDepartment of Pediatrics, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.
Tamim H ShaikhDepartment of Pediatrics, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.
Audrey E HendricksMathematical and Statistical Sciences, University of Colorado Denver, Denver, CO, USA.
University of Colorado Anschutz Medical Campus · USColorado School of Public Health · USUniversity of Calgary · CAUniversity of Colorado Denver · US

Funding

Genomewide Copy Number Variation Analysis and Association with Facial Shape VariationR03DE025363 · NIDCR · UNIVERSITY OF COLORADO DENVER · PI SHAIKH, TAMIM H · 2015 to 2016
$458k
Genetically harmonized dietary intake and causal relationships with diabetes-related outcomesK99DK127196 · NIDDK · MASSACHUSETTS GENERAL HOSPITAL · PI COLE, JOANNE BURNETTE · 2021 to 2022
$178k
NIDCR NIH HHS R03 DE025363NIDDK NIH HHS K99 DK127196
6 · The paper itself

Abstract

Similarity in facial characteristics between relatives suggests a strong genetic component underlies facial variation. While there have been numerous studies of the genetics of facial abnormalities and, more recently, single nucleotide polymorphism (SNP) genome-wide association studies (GWASs) of normal facial variation, little is known about the role of genetic structural variation in determining facial shape. In a sample of Bantu African children, we found that only 9% of common copy number variants (CNVs) and 10-kb CNV analysis windows are well tagged by SNPs (r

Indexed as

AfricanBantuCNVcopy number variantsface shapenormal facial variation

Identifiers

PMID35047866
PMCPMC8756499
OpenAlexW4200340119

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
Read underepoch 390

Registered trials

None linked

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.