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The Evolution of Clinical Genomics: Adopting the Best NGS Workflow

Posted on26/08/2022


Join Covaris and Illumina on Tuesday, 6th September 2022 from 10.00 – 11.00am (SGT)

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Webinar Topics

1. Robust Sample Preparation for Enhanced Confidence in Next Generation Sequencing

Abstract:
Robust, reliable, and reproducible DNA fragmentation plays an extremely important step in Next Generation Sequencing (NGS) for clinical genomics. Efficient DNA fragmentation ensures higher quality for the final sequencing data. NGS workflow warrants high efficiency in every single step from fragmentation to library preparation and eventually in sequencing. Improper sample preparation and handling errors can have a tremendous negative impact on the data, which in turn can render the data unusable for diagnosis.

Covaris’ Adaptive Focused Acoustics® (AFA®) Technology enables efficient DNA fragmentation regardless of DNA concentration and molecular weight, ensuring a tight fragment size distribution, minimal sample loss, and most importantly, desired reliability and reproducibility. In addition, AFA can be efficiently used for seamless emulsification, disruption of tissues, extraction and isolation of Total Nucleic Acids (DNA and RNA) from Formalin-Fixed Paraffin Embedded (FFPE) samples.

Illumina’s TruSight Oncology 500 (TSO 500) protocol describes an enrichment-based approach to convert DNA and RNA extracted from FFPE samples into libraries enriched for cancer-related genes that can be sequenced on Illumina sequencing systems. The TSO 500 assay is optimized to prepare libraries from genomic DNA (gDNA) that needs to be sheared to optimized sizes and offers high fidelity determination of DNA variants across 523 cancer relevant genes. This presentation focuses on demonstrating the optimized DNA fragmentation protocol for the TSO 500 assay with parallel 8-sample processing with an ML230 Focused-ultrasonicator.

DebadeepBhattacharyya
 

Debadeep Bhattacharyya
Sr. Director, Marketing and Protein Market Development,
Covaris, LLC

Bio:
Deb received his Masters of Science in Chemistry from Indian Institute of Technology (Mumbai, India) and his PhD in Chemistry from Emory University (Atlanta, GA, USA). He served as a Research Associate in the Biophysics and Biochemistry Department at the University of North Carolina – Chapel Hill focusing on structural elucidation of Protein-DNA, Protein-Protein complexes leading to development of critical therapeutic pathways. Deb also worked as a visiting faculty at the University of Texas SouthWest Medical Center.

At Covaris, Deb is the Sr. Global Director of Marketing and capitalizes his expertise and experience on critical focus areas such as Protein analysis, Genomics, Epigenetics and Next Generation Sequencing. Deb has authored more than 50 peer reviewed journal articles and led the launch of multiple cutting-edge technologies including LC-MS based solutions.

2. Uncovering Cancer Genomics with TruSight Oncology 500

Abstract:
TruSight Oncology 500 is a next-generation sequencing (NGS) assay that enables in-house comprehensive genomic profiling of tumor samples. It supports identification of all relevant DNA and RNA variants implicated in various tumor types and the pan-cancer content is aligned with key guidelines and clinical trials. The assay targets 523 DNA and 55 RNA genes, including genomic signatures such as TMB, MSI and HRD which helps to understand the underlying genomics from a single sample and workflow.

The DNA library preparation workflow uses Covaris Adaptive Frequency Acoustics (AFA) technology that applies focused bursts of very high frequency acoustic energy, generating post-shearing DNA fragment distribution recommended to obtain DNA median insert size that is ideal for downstream workflow and accurate analysis.

MingxuanLin
 

Mingxuan Lin
Field Applications Scientist,
Illumina

Bio:
Mingxuan graduated from The University of Western Australia in 2009, majoring in Biomedical Sciences. Prior to joining Illumina, she has experience working in both clinical diagnostic lab and research lab, working on various applications including infectious, genetic and oncology diseases. In research, she had the opportunity to run single-cell genomic profiling for the study of relapsed acute myeloid leukemia and using Illumina targeted RNA-sequencing panel for the study of Multiple myeloma. Mingxuan joined Illumina as a Field Applications Scientist in July 2019 and is focused on the oncology segment, supporting users both in Singapore and the region.

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