Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

T2T-CHM13 improves read mapping and detection of clinically relevant genetic variation in the Swedish population.

Genome research - 3 Nov 2025

Schmitz Daniel, Ameur Adam, Johansson Åsa

Abstract excerpt

The T2T-CHM13 reference genome, released in March 2022, fills in the 8% of the human genome that was not resolved in GRCh38 and reconstructs large parts of the known genome. The more accurate and complete reference genome is expected to improve the quality of read mapping and variant calling. Even though whole-genome sequencing (WGS)-based approaches have become the gold standard in medical genetics, the extent...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Chromosome Mapping
Share to Cross-Sectional Studies
Share to Genetic Variation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genome, Human

Share to Sweden

Share to Whole Genome Sequencing

Source

Open in PubMed Open full text

Identifiers

PMID: 40957660
DOI: 10.1101/gr.279320.124
PMCID: PMC12581843

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

T2T-CHM13 improves read mapping and detection of clinically relevant genetic variation in the Swedish population.PMID 40957660Read ↗

A complete reference genome improves analysis of human genetic variationSemantic proximity Read ↗

A complete reference genome improves analysis of human genetic variation.Semantic proximity Read ↗

T2T-CHM13 reference genome reduces mapping bias and enhances alignment accuracy at disease-associated variantsSemantic proximity Read ↗

A T2T-CHM13 recombination map and globally diverse haplotype reference panel improves phasing and imputationSemantic proximity Read ↗

The Platinum Pedigree: A long-read benchmark for genetic variantsSemantic proximity Read ↗

ReliableGenome: annotation of genomic regions with high/low variant calling concordance.Semantic proximity Read ↗

Highly-accurate long-read sequencing improves variant detection and assembly of a human genomeSemantic proximity Read ↗

The Platinum Pedigree: a long-read benchmark for genetic variants.Semantic proximity Read ↗

Scaling accurate genetic variant discovery to tens of thousands of samplesSemantic proximity Read ↗

Unveiling novel genetic variants in 370 challenging medically relevant genes using the long read sequencing data of 41 samples from 19 global populations.Semantic proximity Read ↗

Anyone can be the best: Impact of diverse methodologies on the evaluation of structural variant callersSemantic proximity Read ↗

Genotyping common, large structural variations in 5,202 genomes using pangenomes, the Giraffe mapper, and the vg toolkitSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.