An Automated Genomic Knowledge Base

An Automated Genomic Knowledge Base

The challenge of translating genomic knowledge from the medical literature into clinical insight to drive diagnostic decisions is the focus of Genomenon’s poster presentation at AGBT (Advances in Genome Biology and Technology) 2017 General Meeting this week in Hollywood Florida.

Mark Kiel MD, PhD will be presenting “Mastermind: An Automated Genomic Knowledge Harvesting and Genomic Data Prioritization Tool to Facilitate Analysis of Large-Scale Genomic Data” in poster session #611 in Great Hall 3 at AGBT 2017.

The challenge of interrogating the 26 million articles in PubMed is complicated by the inability to search the full text of the articles, the complexity of the data itself, and the infrequent use of standardized nomenclature to describe both genetic variants and their association with clinical scenarios.

The authors of the poster – including Dr Kiel, go on to describe the solution for indexing millions of publications and creating user-defined searches to pinpoint every article that mentions any disease-gene-variant associate.   This casts a much wider coverage of variants with deeper literature coverage than manually curated databases like COSMIC (Catalogue of Somatic Mutations in Cancer).

See the full poster: Mastermind: An Automated Genomic Knowledge Harvesting and Genomic Data Prioritization Tool to Facilitate Analysis of Large-Scale Genomic Data  or stop by to talk with Dr. Kiel at AGBT this week.

Leave a Reply

Fill in your details below or click an icon to log in:

WordPress.com Logo

You are commenting using your WordPress.com account. Log Out / Change )

Twitter picture

You are commenting using your Twitter account. Log Out / Change )

Facebook photo

You are commenting using your Facebook account. Log Out / Change )

Google+ photo

You are commenting using your Google+ account. Log Out / Change )

Connecting to %s