Evidence map›Paper›PMID 41806827›Full record

ArticleCell genomics2026

Long-read genome sequencing improves detection and functional interpretation of structural and repeat variants in autism.

Milad Mortazavi, James Guevara, Joshua Diaz, Stephen Tran, Helyaneh Ziaei Jam, Chloe Reeves, Sergey Batalov, Kristen Jepsen, Matthew Bainbridge, Aaron D Besterman and 3 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Cell genomics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing 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

2 citing papers in PubMed.

  1. Article
  2. Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

13 authors.

Milad MortazaviDepartment of Psychiatry, University of California, San Diego, La Jolla, CA 92093, USA.
James GuevaraDepartment of Psychiatry, University of California, San Diego, La Jolla, CA 92093, USA.
Joshua DiazDepartment of Psychiatry, University of California, San Diego, La Jolla, CA 92093, USA.
Stephen TranDepartment of Psychiatry, University of California, San Diego, La Jolla, CA 92093, USA.
Helyaneh Ziaei JamDepartment of Computer Science and Engineering, University of California, San Diego, La Jolla, CA 92093, USA.
Chloe ReevesInstitute for Genomic Medicine, University of California, San Diego, La Jolla, CA 92093, USA.
Sergey BatalovRady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA.
Kristen JepsenInstitute for Genomic Medicine, University of California, San Diego, La Jolla, CA 92093, USA.
Matthew BainbridgeRady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA; Codified Genomics LLC, Houston, TX 77030, USA.
Aaron D BestermanDepartment of Psychiatry, University of California, San Diego, La Jolla, CA 92093, USA; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA; Rady Children's Hospital San Diego, San Diego, CA 92123, USA; Laura Rodriguez Research Institute, Family Health Centers of San Diego, San Diego, CA 92101, USA.
Melissa GymrekDepartment of Computer Science and Engineering, University of California, San Diego, La Jolla, CA 92093, USA; Department of Medicine, University of California, San Diego, La Jolla, CA 92093, USA.
Abraham A PalmerDepartment of Psychiatry, University of California, San Diego, La Jolla, CA 92093, USA; Institute for Genomic Medicine, University of California, San Diego, La Jolla, CA 92093, USA.
Jonathan SebatDepartment of Psychiatry, University of California, San Diego, La Jolla, CA 92093, USA; Institute for Genomic Medicine, University of California, San Diego, La Jolla, CA 92093, USA; Department of Cellular and Molecular Medicine and Pediatrics, University of California, San Diego, La Jolla, CA 92093, USA. Electronic address: jsebat@ucsd.edu.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Long-read whole-genome sequencing (LR-WGS) technologies enhance the discovery of structural variants (SVs) and tandem repeats (TRs). We performed LR-WGS on 267 individuals from 63 autism spectrum disorder (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 33% and 38%, respectively, and enabled identification of novel exonic de novo germline and somatic SVs. We observed complex SV patterns, including a class of nested duplication-deletion events. By joint analysis of phased genetic variation and DNA methylation, we identified deletions of imprinted genes and demonstrated the effect of intermediate TR expansions (35-54 CGG) on the methylation of FMR1 promoter. Rare SVs, TRs, and damaging SNVs together accounted for 7.4% (95% confidence interval [CI], 2.7%-17%) of the heritability of ASD. These findings demonstrate how LR-WGS can resolve complex genetic variation and its functional consequences and regulatory effects in a single assay.

Indexed as

Autism Spectrum DisorderAutistic DisorderGenomic Structural VariationTandem Repeat SequencesWhole Genome SequencingDNA MethylationFemaleFragile X Messenger Ribonucleoprotein 1Genetic VariationHumansMalePromoter Regions, GeneticFMR1 protein, humanFragile X Messenger Ribonucleoprotein 1autismburden testCGG repeatcomplex SVsde novo mutationFMR1long-read sequencingmethylationstructural variationtandem repeat

Identifiers

PMID41806827
PMCPMC13174233

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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.