Article

Establishing reference samples for detection of somatic mutations and germline variants with NGS technologies

2019-05-02

Abstract excerpt

We characterized two reference samples for NGS technologies: a human triple-negative breast cancer cell line and a matched normal cell line. Leveraging several whole-genome sequencing (WGS) platforms, multiple sequencing replicates, and orthogonal mutation detection bioinformatics pipelines, we minimized the potential biases from sequencing technologies, assays, and informatics. Thus, our “truth sets” were defined...

Topics

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

Identifiers and source

Literature Corpus work: b92baab9-bc5a-5af2-9e99-e510a8a936bf
DOI: 10.1101/625624

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Establishing reference samples for detection of somatic mutations and germline variants with NGS technologiesDOI 10.1101/625624Read

Whole Genome and Exome Sequencing Reference Datasets from A Multi-center and Cross-platform Benchmark StudySemantic proximity Read

A somatic reference standard for cancer genome sequencing.Semantic proximity Read

Establishing community reference samples, data and call sets for benchmarking cancer mutation detection using whole-genome sequencing.Semantic proximity Read

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

Clinical Validation of Whole Genome Sequencing for Cancer Diagnostics.Semantic proximity Read

Consistency and reproducibility of large panel next-generation sequencing: Multi-laboratory assessment of somatic mutation detection on reference materials with mismatch repair and proofreading deficiency.Semantic proximity Read

Clinical validation of Whole Genome Sequencing for cancer diagnosticsSemantic proximity Read

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

A verified genomic reference sample for assessing performance of cancer panels detecting small variants of low allele frequency.Semantic proximity Read

Comprehensive benchmarking of methods for mutation calling in circulating tumor DNA.Semantic proximity Read

Validation and benchmarking of targeted panel sequencing for cancer genomic profiling.Semantic proximity Read

Effective quality management practices in routine clinical next-generation sequencingSemantic proximity Read