Article

Toward best practices for detecting germline small variants: a large-scale real-world WES benchmarking study using the Quartet DNA reference materials

2024-07-09

Abstract excerpt

<title>Abstract</title> <p>Whole-exome sequencing (WES) plays a crucial role in diagnosing genetic diseases by identifying germline variants. However, reproducibility issues limit its clinical utility. We conducted a large-scale proficiency test across 89 clinical and commercial labs in China, employing the well-characterized Quartet DNA reference materials, to evaluate the impact of experimental and bioinformati...

Topics

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

Identifiers and source

Literature Corpus work: a1c79472-0490-5fd4-b4c3-0b3bb88576f0
DOI: 10.21203/rs.3.rs-4525252/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Toward best practices for detecting germline small variants: a large-scale real-world WES benchmarking study using the Quartet DNA reference materialsDOI 10.21203/rs.3.rs-4525252/v1Read

Quartet DNA reference materials and datasets for comprehensively evaluating germline variants calling performanceSemantic proximity Read

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

Short-Read Sequencing Benchmarking with Donor-Specific AssembliesSemantic proximity Read

From next-generation resequencing reads to a high-quality variant data set.Semantic proximity Read

Quantitative Optimization of Sensitivity and Specificity in Targeted and Whole-Exome Sequencing Using Reference-Standard DNA MixturesSemantic proximity Read

Determining Performance Metrics for Targeted Next-Generation Sequencing Panels Using Reference Materials.Semantic proximity Read

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

Benchmarking small variant detection with ONT reveals high performance in challenging regionsSemantic proximity Read

Best practices for variant calling in clinical sequencing.Semantic proximity Read

Reducing INDEL calling errors in whole-genome and exome sequencing dataSemantic proximity Read

Extend the benchmarking indel set by manual review using the individual cell line sequencing data from the Sequencing Quality Control 2 (SEQC2) project.Semantic proximity Read

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