an early sequencing technique, has been acclaimed for its reliability and precision. Nevertheless, with the course of scientific progression, NGS technologies have emerged, significantly driving the development in the field
Sanger dideoxy sequencing is vital in clinical analysis due to its accuracy, ability to analyze genetic markers like SNPs and STRs, capability to generate reliable DNA profiles, and its role in resolving complex clinical cases. The precision and robustne
The ready availability of genomic data opens the opportunity to identify species in an unknown sample by sequencing DNA of “fingerprint” loci. The Applied Biosystems family of kits, for example, the MicroSEQ kit, has simplified the identification of prokaryotes and fungi by Sanger sequencing riboso...
The ready availability of genomic data opens the opportunity to identify species in an unknown sample by sequencing DNA of “fingerprint” loci. The Applied Biosystems family of kits, for example, the MicroSEQ kit, has simplified the identification of prokaryotes and fungi by Sanger...
Motivation: Sanger sequencing is still being employed for sequence variant detection by many laboratories, especially in a clinical setting. However, chromatogram interpretation often requires manual inspection and in some cases, considerable expertise....
Interpretation Computational deconvolution of sequencing chromatograms can discriminate varying proportions of antimalarial drug-sensitive versus -resistant alleles. This cost-effective and quantitative variant-sequencing approach will be useful for population-based surveys that characterize mixed infections at the...
Tsiatis AC, Norris-Kirby A, Rich RG, Hafez MJ, Gocke CD, Eshleman JR, Murphy KM: Comparison of Sanger sequencing, pyrosequencing, and melting curve analysis for the detection of KRAS mutations: diagnostic and clinical implications. J Mol Diagn. 2010, 12 (4): 425-432. 10.2353/jmoldx.2010....
a result, a multitude of gene-sequencing panels have entered the market, with varying degrees of sensitivity and specificity depending on numerous factors, such as the technologies used for sample enrichment and sequencing, variant-confirmation methods, bioinformatics pipeline, and variant interpretation....
We found that 8 of 23 (35%) of ‘missing’ mutations in Usher type 2 probands with only a single heterozygous USH2A mutation detected with Sanger sequencing could be attributed to deletions, duplications or a pathogenic deep intronic variant. Future mutation detection strategies and genetic counse...
important issues with regard to result interpretation laboratory workflow data storage and ethical considerations. This review describes the current high- throughput sequencing platforms commercially available and compares the inherent advantages and disadvantages of each. The potential applications for clini...