| Literature DB >> 35622325 |
James Peter Stewart1, Jana Gazdova1, Shambhavi Srivastava1, Julia Revolta1, Louise Harewood1, Manisha Maurya1, Nikos Darzentas2, David Gonzalez3.
Abstract
In the era of genomic medicine, targeted next generation sequencing strategies (NGS) are becoming increasingly adopted by clinical molecular diagnostic laboratories to identify genetic diagnostic and prognostic biomarkers in hemato-oncology. We describe the EuroClonality-NGS DNA Capture (EuroClonality-NDC) assay, which is designed to simultaneously detect B and T cell clonal rearrangements, translocations, copy number alterations, and sequence variants. The accompanying validated bioinformatics pipeline enables production of an integrated report. The combination of the laboratory protocol and bioinformatics pipeline in the EuroClonality-NDC minimizes the potential for human error, reduces economic costs compared to current molecular testing strategies, and should improve diagnostic outcomes.Entities:
Keywords: BIOMED-2; Copy number alteration; EuroClonality; Immunoglobulin; Lymphoma; Next generation sequencing; T cell receptor; Translocation
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Year: 2022 PMID: 35622325 DOI: 10.1007/978-1-0716-2115-8_9
Source DB: PubMed Journal: Methods Mol Biol ISSN: 1064-3745