Article

Benchmarking sequence performance on the DNBSEQ-T7 using Genome in a Bottle reference genomes

2026-05-26

Abstract excerpt

Advances in sequencing technologies have improved the accuracy, throughput, and completeness of human genome characterization, enabling more reliable detection of genetic variation. Well-characterized reference genomes are critical for benchmarking sequencing platforms and bioinformatics analysis pipelines. Here, we present whole genome sequencing datasets generated for the Ashkenazi Jewish trio reference samples...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 279646c8-cede-557c-81f1-6d22b438087d
DOI: 10.64898/2026.05.22.727100

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Benchmarking sequence performance on the DNBSEQ-T7 using Genome in a Bottle reference genomesDOI 10.64898/2026.05.22.727100Read

Characterization of subclonal variants in HG002 Genome in a Bottle reference material as a resource for benchmarking variant callers.Semantic proximity Read

Extensive sequencing of seven human genomes to characterize benchmark reference materialsSemantic proximity Read

A robust benchmark for detecting low-frequency variants in the HG002 Genome In A Bottle NIST reference material.Semantic proximity Read

Reproducible integration of multiple sequencing datasets to form high-confidence SNP, indel, and reference calls for five human genome reference materialsSemantic proximity Read

SVCurator: A Crowdsourcing app to visualize evidence of structural variants for the human genomeSemantic proximity Read

Quartet DNA reference materials and datasets for comprehensively evaluating germline variant calling performance.Semantic proximity Read

IUPAC Consensus References Improve Short-Read Variant Detection in Clinically Challenging Regions: A Stratified Benchmarking Study with BurdenBenchSemantic proximity Read

High-depth whole genome sequencing of an Ashkenazi Jewish reference panel: enhancing sensitivity, accuracy, and imputation.Semantic proximity Read

NCBench: providing an open, reproducible, transparent, adaptable, and continuous benchmark approach for DNA-sequencing-based variant callingSemantic proximity Read

Robust Benchmark Structural Variant Calls of An Asian Using the State-of-Art Long Fragment Sequencing TechnologiesSemantic proximity Read

Best Practices for Benchmarking Germline Small Variant Calls in Human GenomesSemantic proximity Read

Quality control of large genome datasets using genome fingerprintsSemantic proximity Read