Evidence map›Paper›PMID 39651202›Full record

ArticlebioRxiv : the preprint server for biology2024

Insights into the causes and consequences of DNA repeat expansions from 700,000 biobank participants.

Margaux L A Hujoel, Robert E Handsaker, Nolan Kamitaki, Ronen E Mukamel, Simone Rubinacci, Pier F Palamara, Steven A McCarroll, Po-Ru Loh

Abstract readPreprint
In one paragraph

Article in bioRxiv : the preprint server for biology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

8 authors.

Margaux L A Hujoel
Robert E HandsakerORCID 0000-0002-3128-3547
Nolan Kamitaki
Ronen E Mukamel
Simone Rubinacci
Pier F Palamara
Steven A McCarroll
Po-Ru Loh

Funding

Structurally complex genome loci in human populations and human phenotypesR01HG006855 · NHGRI · HARVARD MEDICAL SCHOOL · PI Steven Andrew McCarroll · 2012 to 2026
$8.2M
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
Identifying structural variants influencing human health in population cohortsR56HG012698 · NHGRI · BRIGHAM AND WOMEN'S HOSPITAL · PI LOH, PO-RU · 2023 to 2023
$400k
Characterizing structural variation at the amylase locus influencing oral healthF31DE034283 · NIDCR · HARVARD MEDICAL SCHOOL · PI KAMITAKI, NOLAN · 2024 to 2025
$63k
NHGRI NIH HHS R01 HG006855NHGRI NIH HHS R01 HG013110NHGRI NIH HHS R56 HG012698NIDCR NIH HHS F31 DE034283
6 · The paper itself

Abstract

Expansions and contractions of tandem DNA repeats are a source of genetic variation in human populations and in human tissues: some expanded repeats cause inherited disorders, and some are also somatically unstable. We analyzed DNA sequence data, derived from the blood cells of >700,000 participants in UK Biobank and the

Identifiers

PMID39651202
PMCPMC11623664

What OpenQuestion holds

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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.