February 15, 2018
Sponsored by
Genomenon

Mining Genomic Literature for Variant Interpretation and Gene Panel Design

GenomeWebinar

University of Vermont Health Network

College of Medicine, University of Vermont

Q2 Solutions, a Quintiles Quest Joint Venture

Genomenon

In this webinar, an expert panel discusses how they used a genomic search engine to mine the genomic literature for two key applications: variant interpretation and the development of evidence-based diagnostic gene panels.

Nikoletta Sidiropoulos and David Seward from the University of Vermont College of Medicine first discuss their approach and the tools used to quickly and thoroughly mine the scientific literature to interpret variants in somatic cancer cases.

Next, Victor Weigman from Q2 Solutions presents an evidence-based method that his team used to select the content for gene panels by mining millions of full-text genomic articles to identify disease-gene-variant relationships. Dr. Weigman discusses how he created an evidence-based gene panel in under a week with prioritized literature citations for each biomarker.

Finally, Mark Kiel, founder and chief scientific officer of Genomenon, discusses a comprehensive, evidence-based cancer panel that was produced using automated machine learning techniques. The pan-hematopoetic cancer panel is a comprehensive cancer panel of more than 300 genes supported by specific literature citations from among millions of research publications. Dr. Kiel discusses how his team used the Mastermind Genomic Search Engine software to objectively correlate genes and genetic variants with the quality and frequency of scientific literature citations.

Sponsored by

Parabon NanoLabs is partnering with law enforcement to use genetic genealogy approaches to solve cold cases, Buzzfeed News reports.

A Columbia University-led team used emergency contact information from medical records to create family trees and estimate disease heritability.

In Science this week: ancient Southeast Asian genomes provide insight on human migration, and more.

NPR says a new report recommends that former research chimpanzees should be moved to retirement sanctuaries unless that move would shorten their lives.

May
22
Sponsored by
Thermo Fisher Scientific

In this webinar, the third in the “New Frontiers in Liquid Biopsy Research” series, Dr. Liya Xu of the University of Southern California Michelson Center for Convergent Biosciences will discuss her team’s work using liquid biopsy technology for breast cancer research.

Jun
12
Sponsored by
Philips Genomics

This webinar will highlight a comprehensive end-to-end solution for precision care in oncology, comprising sample acquisition through to sequencing and analysis, treatment recommendations, and follow-through.

Jun
14
Sponsored by
Sophia Genetics

This webinar will discuss 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.

Jun
19
Sponsored by
ACD

This webinar will provide evidence for the use of RNA in situ hybridization (RNA ISH) as a replacement for immunohistochemistry (IHC) in cancer research and diagnostic applications.