Evidence map›Paper›PMID 40791370›Full record

ArticlebioRxiv : the preprint server for biology2025

Long-read sequencing of trios reveals increased germline and postzygotic mutation rates in repetitive DNA.

Michelle D Noyes, Yang Sui, Youngjun Kwon, Nidhi Koundinya, Isaac Wong, Katherine M Munson, Kendra Hoekzema, Jennifer Kordosky, Gage H Garcia, Jordan Knuth and 2 more

Abstract readPreprint
PubMed Full text at PMC Publisher
In one paragraph

Article in bioRxiv : the preprint server for biology, 2025. 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

12 authors.

Michelle D NoyesDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
Yang SuiDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
Youngjun KwonDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
Nidhi KoundinyaDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
Isaac WongDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
Katherine M MunsonDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
Kendra HoekzemaDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
Jennifer KordoskyDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
Gage H GarciaDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
Jordan KnuthDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
Alexandra P LewisDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
Evan E EichlerDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.

Funding

Sporadic Mutations and Autism Spectrum DisordersR01MH101221 · NIMH · UNIVERSITY OF WASHINGTON · PI EICHLER, EVAN · 2013 to 2025
$9.2M
NIMH NIH HHS R01 MH101221
6 · The paper itself

Abstract

Long-read sequencing (LRS) has improved sensitivity to discover variation in complex repetitive regions, assign parent-of-origin, and distinguish

Identifiers

PMID40791370
PMCPMC12338747

What OpenQuestion holds

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LicenceCC BY
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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.