Tag Archives: somatic mutations

Detection of somatic point mutations using patients sequencing data has many clinical applications, including the identification of cancer driver genes...

Wednesday, July 25, 2018 10AM PDT | 1PM EDT | 6PM BST | 7PM CEST Checkpoint inhibitors have opened new avenues for treating cancer, however patients treated with these drugs often show poor durability or responsiveness to treatment, and immune toxicity...

Driver somatic mutations are a hallmark of a tumor that can be used for diagnosis and targeted therapy. Mutations are primarily detected from tumor DNA. As dynamic molecules of gene activities, transcriptome profiling by RNA sequence (RNA-seq) is becoming increasingly ...

Next-generation sequencing provides useful information about gene mutations, gene expression, epigenetic modification, microRNA expression, and copy number variations. More and more computing tools have been developed to analyze this large quantity of information. However, to test and find suitable analytical ...

Whole exome sequencing (WES) and RNA sequencing (RNA-Seq) are two main platforms used for next-generation sequencing (NGS). While WES is primarily for DNA variant discovery and RNA-Seq is mainly for measurement of gene expression, both can be used for detection ...

The emergence of precision medicine allowed the incorporation of individual molecular data into patient care. Indeed, DNA sequencing predicts somatic mutations in individual patients. However, these genetic features overlook dynamic epigenetic and phenotypic response to therapy. Meanwhile, accurate personal transcriptome ...

SAN CARLOS, Calif.–(BUSINESS WIRE)–NuGEN Technologies, Inc., a market leader in the development of solutions for Next Generation Sequencing (NGS) applications, has announced the release of a novel targeted enrichment method that, in a single assay, will detect all possible fusion ...

Point mutations in intronic regions near mRNA splice junctions can affect the splicing process. To identify novel splicing variants from exome sequencing data, researchers at University of Milano–Bicocca, Italy developed a bioinformatics splice-site prediction procedure to analyze next-generation sequencing (NGS) ...