Robust identification of extrachromosomal DNA and genetic variants using multiple genetic abnormality sequencing (MGA-Seq)

Abstract excerpt

<h4>SUMMARY</h4> Genomic abnormalities, including structural variation (SV), copy number variation (CNV), single-nucleotide polymorphism (SNP), homogenously staining regions (HSR) and extrachromosomal DNA (ecDNA), are strongly associated with cancer, rare diseases and infertility. A robust technology to simultaneously detect these genomic abnormalities is highly desired for clinical diagnosis and basic research....

Topics

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• Cancer Genomics and Diagnostics
• High-Throughput Nucleotide Sequencing
• Mutagenesis
• Mutation
• Nucleotides
• Pancreatic and Hepatic Oncology Research
• Single-cell and spatial transcriptomics
• Whole Genome Sequencing

Identifiers and source

Literature Corpus work

4eea8a24-2bdf-5fc5-beec-58483ff6ac42

DOI

10.1101/2022.11.18.517160