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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Technology Review reports that 2017 was the year of consumer genetic testing and that it could spur new analysis companies.

A phylogenetic analysis indicates two venomous Australian spiders are more closely related than thought, the International Business Times reports.

In Science this week: CRISPR-based approach for recording cellular events, and more.

A new company says it will analyze customers' genes to find them a suitable date, though Smithsonian magazine says the science behind it might be shaky.

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This webinar will discuss the findings of a recent effort to sequence microbial communities in the Dry Valleys of Antarctica, one of the world's most extreme environments.

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This webinar will walk through key considerations and helpful guidelines to accelerate next-generation sequencing (NGS)-based clinical genomics assay validation for less money and greater confidence in results.

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In this webinar, Jill Viles, an Iowa mother with no clinical training, shares her story of how she self-diagnosed her rare condition, a muscle-wasting disease caused by a mutation in the LMNA gene. She will also discuss how she discovered that a mutation in the same gene is the underlying cause for the excess muscle phenotype exhibited by Canadian Olympic hurdler Priscilla Lopes-Schliep. 

Sponsored by
Swift Biosciences

This webinar will discuss an optimized protocol for methyl-CpG binding domain sequencing (MBD-seq), which enables comprehensive, adequately powered, and cost-effective large-scale methylome-wide association studies (MWAS) of almost all 28 million CpG sites in the genome.