GenomeWebinars

In this two-part webinar, Dr. Elin Gray, from Edith Cowan University, and Ms. Weiwei Zhao, from Kingmed diagnostic, will compare the highly sensitive, multiplexed UltraSEEK technology, on the MassARRAY system, to digital droplet PCR (ddPCR) results on melanoma and non-small cell lung carcinoma samples.

Dr. Elin Gray will first demonstrate how the UltraSEEK Melanoma panel, probing for 61 mutations over 13 genes, provided equivalent analytical sensitivity and accuracy to ddPCR. This study included a blinded analysis of 68 mutations detected in 48 plasma samples from stage IV melanoma patients. Ms. Weiwei Zhao will also discuss her study between UltraSEEK EGFR to ddPCR for the detection of T790M, and other EGFR activating mutations in NSCLC. In this study, 94 cfDNA samples from advanced lung cancer patients, who were progressing on EGFR TKI, were run on UltraSEEK and ddPCR. Both UltraSEEK EGFR and ddPCR were able to achieve 0.1% minor allele fractions.

The two studies summarized in this webinar further demonstrate the benefits of using a highly sensitive and multiplexed technology when testing plasma-derived ctDNA for somatic mutations in cancer.

Due to our speakers being located in different time zones, this webinar will be pre-recorded. All webinar registrants have the opportunity to submit questions on the registration page and/or you can email them in after the webinar is released on August 9th.

In this webinar, Dr. Fergus Couch from the Mayo Clinic presents data from a large study that used a targeted sequencing panel to determine pancreatic cancer risk associated with inherited mutations in several cancer predisposition genes.

Inherited germline mutations have been suggested to put individuals with prior family history at risk of developing pancreatic cancer. However, the risk of developing pancreatic cancer due to these mutations without a family history of the disease remains largely unknown. To address this, Dr. Couch and colleagues sequenced the coding regions and consensus splice sites of 21 cancer predisposition genes using an optimized custom DNA panel in more than 3,000 pancreatic cancer patients. Inherited mutations in six cancer predisposition genes were identified to be significantly associated with pancreatic cancer.

Dr. Couch outlines challenges of current targeted sequencing approaches for such large studies, detail the methodologies used to analyze this cohort, and present results of this study.

This webinar reviews a standardized, high-throughput, and fully automated library prep protocol for human metagenomic analysis. 

The human gastrointestinal tract hosts up to 100 trillion microbes with the greatest numbers residing in the distal gut. Given the vast presence of microbial genetic information, the ability to characterize communities from fecal material via next generation sequencing (NGS) has revolutionized the understanding of the human microbiome, and its influence on health. In order to gain further insight on these influences, the need for a standardized and scalable NGS metagenomics protocol is needed to minimize inconsistencies among existing methods (sample collection, sample storage conditions, experimental design, and scalability), which typically lead to data disparities and misrepresentation of the true state of the human microbiome.

In this webinar, Dr. Agata Czyz of Illumina's Genomic Applications Department discusses a comparative metagenomics study that relied on a high-throughput and automated library prep protocol for stool. Dr. Czyz discusses several parameters and methodologies that her team tested as well as the key findings of the study.

This webinar discusses an effort underway at the University of North Carolina Medical Center's to overcome limitations in the hematological genomic testing workflow with artificial intelligence (AI) from Sophia Genetics.

In the first part of this webinar, Dr. Nathan Montgomery of the UNC Medical Center discusses the rigorous evaluation his lab performed to evaluate Sophia Genetics Myeloid Solution against the overall performance of other vendors' solutions.

The Myeloid Solution is a molecular application that bundles Sophia AI with a capture-based target enrichment kit and full access to Sophia DDM platform. The application is designed to accurately characterize the complex mutational landscape of relevant hematological disorders associated with leukemia, myelodysplastic syndromes, and myeloproliferative neoplasms.

Dr. Montgomery first explains the limitations and challenges of the current myeloid test workflow, and the rationale for the group's decision to evaluate other solutions, including the need to perform orthogonal testing of genes with high GC content such as CEBPα. Then, he will lay out the strategy he and his group applied to objectively assess the overall strengths and weaknesses of each technology. Finally, Dr. Montgomery presents his team's conclusions and the reasons they decided to work with Sophia Genetics.

In the second part of this webinar, Dr. Montgomery gives an update on UNC Medical Center's progress with in-house validation and the lab's next steps.

In the last part of the webinar, Dr. Alexander Kurze of Sophia Genetics briefly introduces a solution that will be soon available to test for gene fusions in hematological diseases.