Evidence map›Paper›PMID 41338220›Full record

ArticleCell genomics2026

Analysis of error profiles of indels and structural variants in deep-sequencing data.

Ying Shao, Quang Tran, Yuan Feng, Pandurang Kolekar, Yanling Liu, Zhikai Liang, Li Fan, Andrea McBride, Tyler Jones, Alexis Cameron and 11 more

Abstract read
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 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing 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

3 citing papers in PubMed.

  1. Article
  2. Article
  3. Article
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

21 authors.

Ying ShaoDepartment of Computational Biology, St. Jude Children's Research Hospital, Memphis, TN 38105, USA.
Quang TranDepartment of Computational Biology, St. Jude Children's Research Hospital, Memphis, TN 38105, USA.
Yuan FengDepartment of Computational Biology, St. Jude Children's Research Hospital, Memphis, TN 38105, USA.
Pandurang KolekarDepartment of Computational Biology, St. Jude Children's Research Hospital, Memphis, TN 38105, USA.
Yanling LiuDepartment of Computational Biology, St. Jude Children's Research Hospital, Memphis, TN 38105, USA.
Zhikai LiangDepartment of Computational Biology, St. Jude Children's Research Hospital, Memphis, TN 38105, USA.
Li FanDepartment of Computational Biology, St. Jude Children's Research Hospital, Memphis, TN 38105, USA.
Andrea McBrideNationwide Children's Hospital, Columbus, OH 43205, USA.
Tyler JonesNationwide Children's Hospital, Columbus, OH 43205, USA.
Alexis CameronNationwide Children's Hospital, Columbus, OH 43205, USA.
Heather MulderDepartment of Computational Biology, St. Jude Children's Research Hospital, Memphis, TN 38105, USA.
Lingyun JiDepartment of Population and Public Health Sciences, Keck School of Medicine, University of Southern California, Los Angeles, CA 90033, USA.
Benjamin J HuangDepartment of Pediatrics, University of California, San Francisco, San Francisco, CA 94143, USA.
Jeffery M KlcoDepartment of Pathology, St. Jude Children's Research Hospital, Memphis, TN 38105, USA.
Soheil MeshinchiTranslational Science and Therapeutics Division, Fred Hutchinson Cancer Research Center, Seattle, WA 98109, USA.
Jinghui ZhangDepartment of Computational Biology, St. Jude Children's Research Hospital, Memphis, TN 38105, USA.
William L CarrollDivision of Pediatric Hematology and Oncology, Stephen D. Hassenfeld Children's Center for Cancer and Blood Disorders, Perlmutter Cancer Center at NYU Langone Health, New York University, New York, NY 10016, USA.
Mignon L LohBen Towne Center for Childhood Cancer Research, Seattle Children's Research Institute and the Department of Pediatrics, Seattle Children's Hospital, University of Washington, Seattle, WA 98101, USA. Electronic address: mignon.loh@seattlechildrens.org.
John EastonDepartment of Computational Biology, St. Jude Children's Research Hospital, Memphis, TN 38105, USA. Electronic address: john.easton@stjude.org.
Patrick A BrownBeOne Medicines, Cambridge, MA 02142, USA. Electronic address: pbrown.0314@gmail.com.
Xiaotu MaDepartment of Computational Biology, St. Jude Children's Research Hospital, Memphis, TN 38105, USA. Electronic address: xiaotu.ma@stjude.org.

Funding

NCTN BIQSFP ANBL1531 (NRT)U10CA180886 · NCI · PUBLIC HEALTH INSTITUTE · PI Douglas S. Hawkins · 2014 to 2026
$390.6M
Viral Vector Technology (VVTSR)P30CA021765 · NCI · ST. JUDE CHILDREN'S RESEARCH HOSPITAL · PI Shondra Michelle Miller · 1985 to 2026
$166.9M
COG SDMC - Statistics CoreU10CA180899 · NCI · UNIVERSITY OF SOUTHERN CALIFORNIA · PI TODD A ALONZO · 2014 to 2026
$132.8M
Identifying Relapse Predictors and Therapeutic Vulnerabilities in Ph+ and Ph-like Acute Lymphoblastic LeukemiaR01CA293587 · NCI · SEATTLE CHILDREN'S HOSPITAL · PI LOH, MIGNON LEE-CHEUN, TASIAN, SARAH KATHLEEN · 2025 to 2025
$3.5M
Tracking Therapy-Resistant Alterations in Childhood Acute Lymphoblastic LeukemiaR01CA273326 · NCI · ST. JUDE CHILDREN'S RESEARCH HOSPITAL · PI Xiaotu Ma · 2022 to 2026
$2.1M
NCI NIH HHS P30 CA021765NCI NIH HHS R01 CA273326NCI NIH HHS R01 CA293587NCI NIH HHS U10 CA180886NCI NIH HHS U10 CA180899
6 · The paper itself

Abstract

Despite extensive studies of the error profiles of SNVs, those of insertions/deletions (indels)/structural variants (SVs) remain elusive. Using ultra-deep sequencing, we show that the error rates of indel/SVs are >100-fold lower than those of SNVs, although repeat indels have high error rates of 1%. We validated this pattern in a cohort of 103 patients with relapsed B cell acute lymphoblastic leukemia (B-ALL). We analyzed repeat indels in 339 cancer driver genes and demonstrated that the number of repeat units is highly predictive of the error rate. We then analyzed minimal residual disease samples from 72 patients with relapsed B-ALL and demonstrated that our approach had positive detections in 61% of cases, outperforming clinical flow cytometry (51% detection). Overall, we established indel and SV error profiles in deep next-generation sequencing (NGS) data, enabling superior tumor detection at very low burdens, which has a significant impact on the clinical diagnosis and monitoring of human cancers and other diseases.

Indexed as

High-Throughput Nucleotide SequencingINDEL MutationHumansPolymorphism, Single Nucleotidecancer early detectiondeep sequencingerror profilerepeat indelssensitive detectionstructural variants and indels

Identifiers

PMID41338220
PMCPMC12903382

What OpenQuestion holds

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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.