Evidence map›Paper›PMID 42775140›Full record

ArticleiScience2026

T2T-CHM13 reference genome reduces mapping bias and enhances alignment accuracy at disease-associated variants.

Ilaria Cherchi, Francesco Orlando, Orsetta Quaini, Marta Paoli, Yari Ciani, Francesca Demichelis

Abstract read
In one paragraph

Article in iScience, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. 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

6 authors.

Ilaria CherchiDepartment of Cellular, Computational and Integrative Biology, University of Trento, Trento, Italy.
Francesco OrlandoDepartment of Cellular, Computational and Integrative Biology, University of Trento, Trento, Italy.
Orsetta QuainiDepartment of Cellular, Computational and Integrative Biology, University of Trento, Trento, Italy.
Marta PaoliDepartment of Cellular, Computational and Integrative Biology, University of Trento, Trento, Italy.
Yari CianiDepartment of Cellular, Computational and Integrative Biology, University of Trento, Trento, Italy.
Francesca DemichelisDepartment of Cellular, Computational and Integrative Biology, University of Trento, Trento, Italy.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The T2T-CHM13v2.0 reference genome added previously uncharacterized genomic sequences and improved the accuracy of repetitive stretches compared to former human genome assemblies. By comprehensive allelic variation analysis and read mapping statistics from sequencing reads aligned to hg38 and T2T-CHM13 assemblies in samples encompassing different sequencing designs, we observed that T2T-CHM13v2.0 assembly significantly reduces the reference mapping bias (RMB) and increases read mapping precision at clinically relevant sites, including

Indexed as

BRCA1clinical genomicsprecision medicinereference genomereference mapping biasSNP callingvariant calling

Identifiers

PMID42775140
PMCPMC13595211

What Socratic holds

Textmetadata
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 Socratic graph.