Evidence map›Paper›PMID 39048794›Full record

ArticleNature genetics2024

A sequence of SVA retrotransposon insertions in ASIP shaped human pigmentation.

Nolan Kamitaki, Margaux L A Hujoel, Ronen E Mukamel, Edward Gebara, Steven A McCarroll, Po-Ru Loh

Abstract read
In one paragraph

Article in Nature genetics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.

0numbers the graph read from it
0cells of the map it votes in
13citing 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

13 citing papers in PubMed.

  1. Review
  2. Article
  3. Review
  4. Article
  5. Article
  6. Article
  7. Article
  8. Article
  9. Article
  10. Proceedings of the National Academy of Sciences of the United States of America · 2025
    Article
  11. The landscape of non-reference SINE-VNTR-Alus in amyotrophic lateral sclerosis.Experimental biology and medicine (Maywood, N.J.) · 2025
    Article
  12. Article
  13. Review
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

6 authors.

Nolan KamitakiDivision of Genetics, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA. nolan_kamitaki@hms.harvard.edu.ORCID http://orcid.org/0000-0003-0614-0189
Margaux L A HujoelDivision of Genetics, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA.ORCID http://orcid.org/0000-0001-9116-1712
Ronen E MukamelDivision of Genetics, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA.
Edward GebaraProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID http://orcid.org/0000-0002-8517-0003
Steven A McCarrollProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA. smccarro@broadinstitute.org.ORCID http://orcid.org/0000-0002-6954-8184
Po-Ru LohDivision of Genetics, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA. poruloh@broadinstitute.org.ORCID http://orcid.org/0000-0001-5542-9064

Funding

Training Program in Bioinformatics and Integrative GenomicsT32HG002295 · NHGRI · MASSACHUSETTS INSTITUTE OF TECHNOLOGY · PI Peter J Park · 2001 to 2026
$15.8M
Structurally complex genome loci in human populations and human phenotypesR01HG006855 · NHGRI · HARVARD MEDICAL SCHOOL · PI Steven Andrew McCarroll · 2012 to 2026
$8.2M
Revealing somatic genome alterations and their clinical sequelae: Ultrasensitive computational detection of mosaic structural variantsDP2ES030554 · NIEHS · BRIGHAM AND WOMEN'S HOSPITAL · PI LOH, PO-RU · 2018 to 2018
$2.7M
Leveraging biobank-scale whole-genome sequencing for polygenic risk predictionR01HG013110 · NHGRI · BRIGHAM AND WOMEN'S HOSPITAL · PI Po-Ru Loh · 2023 to 2026
$1.8M
Exploring the role of genomic repeats in cardiovascular disease heritabilityK25HL150334 · NHLBI · BRIGHAM AND WOMEN'S HOSPITAL · PI MUKAMEL, RONEN · 2020 to 2024
$783k
Identifying structural variants influencing human health in population cohortsR56HG012698 · NHGRI · BRIGHAM AND WOMEN'S HOSPITAL · PI LOH, PO-RU · 2023 to 2023
$400k
Exploring the role of genomic copy number variation in cardiovascular disease riskF32HL160061 · NHLBI · BRIGHAM AND WOMEN'S HOSPITAL · PI HUJOEL, MARGAUX · 2021 to 2024
$212k
NHGRI NIH HHS R01 HG006855NHGRI NIH HHS R01 HG013110NHGRI NIH HHS R56 HG012698NHGRI NIH HHS T32 HG002295NHLBI NIH HHS F32 HL160061NHLBI NIH HHS K25 HL150334NIEHS NIH HHS DP2 ES030554
6 · The paper itself

Abstract

Retrotransposons comprise about 45% of the human genome

Indexed as

Agouti Signaling ProteinRetroelementsSkin PigmentationAllelesGenome, HumanHumansIntronsMutagenesis, InsertionalSkin NeoplasmsAgouti Signaling ProteinRetroelements

Identifiers

PMID39048794
PMCPMC11319198

What OpenQuestion holds

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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.