0950-7051/$ see front matter 2010 Elsevier B.V. A doi:10.1016/j.knosys.2010.03.010 * Corresponding author. Address: Software Quality L and Technology, Hellenic Open University, 12–15 Tsa 26222, Greece. Tel.: +3

Pre-existing low-frequency resistance-associated variants (RAVs) may jeopardize successful sustained virological responses (SVR) to HCV treatment with direct-acting antivirals (DAAs). However, the potential impact of low-frequency (∼0.1%) mutations, concatenated mutations (haplotypes), and their association with genotypes (Gts) on the treatment outcome has not yet been elucidated, most probably...

Background: Osteogenesis imperfecta (OI) is a clinically and genetically heterogeneous disorder characterized by bone loss and bone fragility. The aim of this study was to investigate the variants of three genes involved in the pathogenesis of OI. Methods: Molecular genetic analyses were performed for COL1A1, COL1A2, and CRTAP genes in an Iranian family with OI. The DNA samples were analyzed by...

INTRODUCTION Tumor tissue and circulating tumor DNA (ctDNA) next-generation sequencing (NGS) testing are frequently performed to detect genomic alterations (GAs) to help guide treatment in metastatic renal cell carcinoma (mRCC), especially after progression on standard systemic therapy. Our objective was to assess if GAs detected by ctDNA NGS are different from those detected by tumor tissue NG...

Next-generation sequencing (NGS) is becoming a standard for genetic analyses of clinical samples. DNAs retrieved from formalin-fixed, paraffin-embedded (FFPE) tissue specimens are commonly degraded, and specimens such as core biopsies are sometimes too small to obtain enough DNA for NGS applications. Thus, it is important to measure both the DNA quantity and quality accurately from clinical sam...

Sample Tumor Type C.1 (low/high) C.2 (anapl/non-anapl) C.3 (gliob/non-gliob) C.4 (glios/non-glios) T19 Oligodendroglioma l n ngb ngs T21 Anaplastic mixed glioma l a ngb ngs T24 Anaplastic mixed glioma l a ngb ngs T18 Glioblastoma/Gliosarcoma h n ngb/gb ngs/gs T20 Glioblastoma h n gb ngs T22 Glioblastoma h n gb ngs T23 Glioblastoma h n gb ngs T25 Glioblastoma h n gb ngs T26 Glioblastoma h n gb n...