Evidence map›Paper›PMID 40778130›Full record

ArticlemedRxiv : the preprint server for health sciences2025

Long Read Genome Sequencing Elucidates Diverse Functional Consequences of Structural and Repeat Variation in Autism.

Milad Mortazavi, James Guevara, Joshua Diaz, Stephen Tran, Helyaneh Ziaei Jam, Sergey Batalov, Matthew Bainbridge, Aaron D Besterman, Melissa Gymrek, Abraham A Palmer and 1 more

Abstract readPreprint
PubMed Full text at PMC Publisher
In one paragraph

Article in medRxiv : the preprint server for health sciences, 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

11 authors.

Milad MortazaviDepartment of Psychiatry, University of California San Diego, La Jolla, CA, USA.ORCID 0000-0003-2893-3729
James GuevaraDepartment of Psychiatry, University of California San Diego, La Jolla, CA, USA.
Joshua DiazDepartment of Psychiatry, University of California San Diego, La Jolla, CA, USA.
Stephen TranDepartment of Psychiatry, University of California San Diego, La Jolla, CA, USA.
Helyaneh Ziaei JamDepartment of Computer Science and Engineering, University of California San Diego, La Jolla, CA, USA.
Sergey BatalovRady Children's Institute for Genomic Medicine, San Diego, California, USA.
Matthew BainbridgeRady Children's Institute for Genomic Medicine, San Diego, California, USA.
Aaron D BestermanDepartment of Psychiatry, University of California San Diego, La Jolla, CA, USA.ORCID 0000-0002-8671-1203
Melissa GymrekDepartment of Computer Science and Engineering, University of California San Diego, La Jolla, CA, USA.
Abraham A PalmerDepartment of Psychiatry, University of California San Diego, La Jolla, CA, USA.
Jonathan SebatDepartment of Psychiatry, University of California San Diego, La Jolla, CA, USA.

Funding

Refining Mendelian disease analysis via detection of clinically relevant repeat variantsR01HG010149 · NHGRI · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI Vineet Bafna, Vikas Bansal · 2018 to 2026
$4.5M
Expanding the accessible genetic architecture of autism by single molecule sequencingR01MH113715 · NIMH · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI SEBAT, JONATHAN · 2017 to 2021
$4.1M
The role of structural variants and tandem repeats in substance abuse-related behavioral traitsU01DA051234 · NIDA · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI GYMREK, MELISSA, PALMER, ABRAHAM A · 2021 to 2025
$3.5M
Whole genome dissection of genetic mechanisms that underlie the phenotypic spectrum of autismR56MH133899 · NIMH · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI SEBAT, JONATHAN · 2023 to 2023
$739k
NHGRI NIH HHS R01 HG010149NIDA NIH HHS U01 DA051234NIMH NIH HHS R01 MH113715NIMH NIH HHS R56 MH133899
6 · The paper itself

Abstract

Long-read whole genome sequencing (LR-WGS) technologies enhance the discovery of structural variants (SVs) and tandem repeats (TRs). Application of LR-WGS has potential to identify novel risk factors that contribute to autism spectrum disorder (ASD). We performed LR-WGS on 243 individuals from 63 ASD families and generated an integrated call set combining long- and short-read data. LR-WGS increased detection of gene-disrupting SVs and TRs by 29% and 38%, respectively, and enabled identification of novel exonic

Indexed as

burden testCGG repeatcomplex SVsde novo SVsFMR1Long readsmethylationstructural variationtandem repeat

Identifiers

PMID40778130
PMCPMC12330410

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.