A Novel Single Next-Generation Sequencing (NGS) Approach for the Molecular Karyotyping and Genotyping of Patients with Myelodysplastic Syndromes (original) (raw)

2017

Abstract

Myelodysplastic Syndromes (MDS) are a heterogeneous group of diseases, characterized by the clonal acquisition of somatic point mutations and chromosomal alterations. Conventional karyotyping remains one of the most important tools for MDS diagnosis because several cytogenetics abnormalities can be used to stratify patients into subtypes with different prognoses. However, a non-informative cytogenetics due to normal or unsuccessful karyotype could lead to an erroneous estimation of the prognostic risk. To overcome this drawback, we assessed the reliability of a single Next-Generation Sequencing (NGS) assay to simultaneously detect Single Nucleotide Variations (SNVs), including small indels, as well as Copy Number Alterations (CNAs) and copy-neutral Loss of Heterozygosity (cnLOH) for diagnostic application. We combined a custom panel, targeting 40 genes frequently implicated in myeloid neoplasms, with a target enrichment design (OneSeq, Agilent®), having a genome-wide backbone resolu...

Alexander Neef hasn't uploaded this paper.

Let Alexander know you want this paper to be uploaded.

Ask for this paper to be uploaded.