Article

Personalized genome assembly for accurate cancer somatic mutation discovery using cancer-normal paired reference samples

2021-04-10

Abstract excerpt

The use of personalized genome assembly as a reference for detecting the full spectrum of somatic events from cancers has long been advocated but never been systematically investigated. Here we address the critical need of assessing the accuracy of somatic mutation detection using personalized genome assembly versus the standard human reference assembly (i.e. GRCh38). We first obtained massive whole genome sequenc...

Topics

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

Identifiers and source

Literature Corpus work: 3023888f-4638-5ee5-b718-4b59b3de5961
DOI: 10.1101/2021.04.09.438252

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Personalized genome assembly for accurate cancer somatic mutation discovery using cancer-normal paired reference samplesDOI 10.1101/2021.04.09.438252Read

Personalized genome assembly for accurate cancer somatic mutation discovery using tumor-normal paired reference samples.Semantic proximity Read

Improving long-read somatic structural variant calling with pangenome and de novo personal genome assemblySemantic proximity Read

Diploid donor-specific assembly enhances somatic structural variant detection in cancer genomesSemantic proximity Read

Leveraging Human Pangenome for Improved Somatic Variant DetectionSemantic proximity Read

Personalized reference genome-based pipeline reveals comprehensive haplotype-resolved views of cancer genomesSemantic proximity Read

Pansoma, a machine learning tool for identifying somatic variants using pangenome graphsSemantic proximity Read

Whole-genome sequencing with long reads reveals complex structure and origin of structural variation in human genetic variations and somatic mutations in cancer.Semantic proximity Read

The benefit of a complete reference genome for cancer structural variant analysisSemantic proximity Read

Evaluation of GRCh38 and de novo haploid genome assemblies demonstrates the enduring quality of the reference assemblySemantic proximity Read

An Individualized Approach for Somatic Variant Discovery.Semantic proximity Read

HICANCER: accurate and complete cancer genome phasing with Hi-C reads.Semantic proximity Read

The human pangenome reference reduces ancestry-related biases in somatic mutation detectionSemantic proximity Read