Suéñelo, secuéncielo: nuevas tecnologías de secuenciación para permitirle sus descubrimientos más brillantes

Vishal Dixit, Senior NGS Field Application Scientist, Twist Bioscience, Germany

Explore our customers' benefits from advanced sequencing technologies, with improved efficiency, reduced costs, and enhanced data quality. Learn how laboratories use Twist solutions across diverse research domains, covering various samples and applications. Whether you're interested in RNAseq, cfDNA complexities, or molecular diagnostics, Twist welcomes you. Explore how these innovations revolutionize pathology profiling, addressing cancer and rare diseases.

Using targeted long-read sequencing of pharmacogenes to improve drug response predictions

Dr. Susan Kloet, Head of the Leiden Genome Technology Center, Leiden University Medical Center, The Netherlands

Join Dr. Kloet and her team's collaboration with Twist Bioscience in developing a long-read capture workflow for 21 pharmacogenes utilizing PacBio HiFi sequencing. The presentation will encompass benchmarking results regarding panel performance, alongside preliminary variant calling and analysis conducted on a clinical cohort.

Long-read panel sequencing for including problem genes and non-coding regions in genetic diagnostics

Prof. Dr. Johannes Zschocke, PhD.,  Institute of Human Genetics, Medical University Innsbruck, Austria

Discover the versatility of customized full-length gene enrichment coupled with PacBio multiplex HiFi long-read sequencing for comprehensive gene analysis. This rapid, cost-effective, and flexible approach is tailored for conditions influenced by a limited set of well-known genes, including complex or homologous "problem" genes demanding specialized diagnostic methodologies.

Vea el simposio de Twist en el congreso de la European Society of Human Genetics. 

Tras una interesante introducción de Vishal Dixit, científico sénior de aplicaciones de campo de NGS de Twist, nos complace dar la bienvenida a la Dra. Susan Kloet, Head of the Leiden Genome Technology Center at the Leiden University Medical Center (The Netherlands). She presented on the use of targeted long-read sequencing of pharmacogenes to improve drug response predictions.

Asimismo, el Prof. Dr. Johannes Zschocke, PhD., Institute of Human Genetics at the Medical University Innsbruck (Austria) showcased how they use long-read panel sequencing to include problem genes and non-coding regions in genetic diagnostics.