Article

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

2024-12-05

Abstract excerpt

Somatic mosaicism is an important cause of disease, but mosaic and somatic variants are often challenging to detect because they exist in only a fraction of cells. To address the need for benchmarking subclonal variants in normal cell populations, we developed a benchmark containing mosaic variants in the Genome in a Bottle Consortium (GIAB) HG002 reference material DNA from a large batch of a normal lymphoblastoi...

Topics

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

Identifiers and source

Literature Corpus work: 38bffee0-3b94-5de4-873e-da23203c266f
DOI: 10.1101/2024.12.02.625685

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

A robust benchmark for detecting low-frequency variants in the HG002 Genome In A Bottle NIST reference material.DOI 10.1101/2024.12.02.625685Read

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

Establishment of reference standards for multifaceted mosaic variant analysis.Semantic proximity Read

Comprehensive benchmarking of somatic structural variant detection at ultra-low allele fractionsSemantic proximity Read

Establishment of reference standards for multifaceted mosaic variant analysisSemantic proximity Read

A robust benchmark for evaluating and improving mosaic variant calling strategiesSemantic proximity Read

Scalable and comprehensive mosaic variant calling using DRAGENSemantic proximity Read

Driving mosaicism: somatic variants in reference population databases and effect on variant interpretation in rare genetic disease.Semantic proximity Read

Comprehensive benchmarking and guidelines of mosaic variant calling strategies.Semantic proximity Read

A robust benchmark for germline structural variant detectionSemantic proximity Read

Benchmarking sequence performance on the DNBSEQ-T7 using Genome in a Bottle reference genomesSemantic proximity Read

Comprehensive benchmarking of somatic mutation detection by the SMaHT NetworkSemantic proximity Read

Best practices for the analytical validation of clinical whole-genome sequencing intended for the diagnosis of germline diseaseSemantic proximity Read