December 05, 2017
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Combined Mutation Detection and Copy Number Profiling by Error-Corrected ctDNA Sequencing


Clinician Scientist & Medical Oncologist,
Institute of Cancer Research, London and the Royal Marsden Hospital

This webinar discusses a molecular barcode-based error correction method that enables combined mutation detection and DNA copy number profiling through circulating tumor DNA sequencing.

Mutations and DNA copy number aberrations (CNAs) are important predictive biomarkers in cancer medicine, but spatial intratumor heterogeneity can hinder accurate cancer profiling from biopsies and cancer evolution alters genomic profiles over time.

Circulating tumor DNA (ctDNA) sequencing may overcome these hurdles by enabling multi-timepoint testing and the detection of subclones that are disseminated in space.

In this webinar, Dr. Marco Gerlinger of the Institute of Cancer Research, London, discusses an approach that combines solution hybrid capture for target enrichment and molecular barcodes for sequencing error correction. This customizable ultra-sensitive ctDNA sequencing technology can be applied to 25 ng of ctDNA, a quantity that can usually be obtained from 10-20 ml of blood. Deep sequencing of the target region with over 20,000x depth enables mutation detection in driver gene panels with a sensitivity of up to 0.1%. The analysis of off-target reads allows simultaneous genome-wide CNA profiling.

Sample preparation, sequencing, and data analysis workflows as well as a concordance analysis of ctDNA and tumor sequencing in colorectal cancers are presented in the webinar.

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What happens to scientific papers when certain journals are no longer published? Some scientists are trying to make sure they don't disappear forever.

A study in Microbiome finds that heavy drinkers have an unhealthy mix of bacteria in their mouths.

Doctors and patients are still trying to figure out what role at-home genetic testing should play in healthcare, Newsweek says.

In Genome Research this week, mismatch repair deficiency in C. elegans, retracing transcriptions start site evolution in the human genome, and more. 

Sponsored by
Thermo Fisher Scientific

In this webinar, the second in the “New Frontiers in Liquid Biopsy Research” series, Luca Quagliata, Senior Consultant in the Molecular Pathology Unit at University Hospital Basel, will share two specific unmet needs within his lab’s liquid biopsy research that led to the eventual evaluation, adoption, and implementation of the latest liquid biopsy Oncomine NGS solutions from Thermo Fisher.

Sponsored by
Horizon Discovery

This webinar will provide an in-depth case study demonstrating how reference standards can be used to develop and validate circulating tumor DNA (ctDNA)-based assays.

Sponsored by
Canon BioMedical

This webinar will introduce new technologies that enable multidimensional measurements from single cells to obtain a more complete picture of a cell’s phenotype and gene expression.

Sponsored by
Dovetail Genomics

This webinar will discuss a proximity ligation-based method for studying structural variation in formalin-fixed paraffin-embedded (FFPE) tissue.