Next-generation sequencing technology has enabled the detection of rare genetic or somatic mutations and contributed to our understanding of disease progression and evolution. However, many next-generation sequencing technologies first rely on DNA amplification, via the Polymerase Chain Reaction (PCR), as part of sample preparation workflows. Mistakes made during PCR appear in sequencing data a...

Melanoma patients with BRAF mutations respond to treatment with vemurafenib, thus creating a need for accurate testing of BRAF mutation status. We carried out a blinded study to evaluate various BRAF mutation testing methodologies in the clinical setting. Formalin-fixed, paraffin-embedded melanoma samples were macrodissected before screening for mutations using Sanger sequencing, single-strand ...

Genomic variation among human cytomegalovirus (HCMV) strains is probably involved in HCMV-induced pathogenesis. The envelope glycoprotein N (gN) showed extensive genetic polymorphism as HCMV isolates have been clustered into four distinct gN variants (gN-1, gN-2, gN-3, gN-4) whose distribution has been analyzed worldwide using different methodological approaches (PCR-RFLP, PCR-Cloning, PCR-Sequ...

The aims of the study were to: Investigate polymorphisms in the ND-5 region of bovine mitochondrial DNA in the composite and purebred Hereford herds from the Wokalup selection experiment, sequencing and compare the sequences between haplotypes and published sequence from Genebank. A total of 194 Hereford and 235 composite breed cattle from Wokalup Research Station were used in this study. The m...