Genomenon : September Genomics Roundup from Genomenon

Genomenon are adding a much-anticipated feature in the October Mastermind update: The ability to search by CNV! Anyone who registers for the CNV Masterclass will receive a two-week complimentary upgrade to Mastermind Professional Edition to experience this game-changing capability for themselves! Learn more and register below.

REGISTER TODAY!

MASTERMIND MASTERCLASS

CNV Search

Thursday, October 15th, 2020 | 8:00am PDT / 11:00am EDT / 4:00pm BST / 5:00pm CEST

The October release of the Mastermind Genomic Search Engine will include CNV Search! Register now to learn from the architects of Mastermind how searching by CNV (Copy Number Variant) will accelerate your clinical workflow!

CNVs cause 5-30% of genetic diseases, making them a vital component to any clinical interpretation pipeline. CNVs are highly heterogeneous, and currently available databases are difficult to navigate and contain limited or outdated information. This makes interpretation of CNVs extremely challenging and time-consuming. In addition, evolving and inconsistent nomenclature for CNV reporting over time has created significant challenges in searching for evidence in the literature, which can result in missing information relevant to diagnosis and interpretation.

This new feature allows users to identify CNV citations from the full text of articles no matter how authors have described them, and to discover how they are associated with clinical diseases and phenotypes.

LEARN MORE & REGISTER

CNV search will be available in Mastermind Professional Edition

REGISTER FOR THIS MASTERCLASS AND GET A 2-WEEK UPGRADE TO PROFESSIONAL EDITION STARTING OCTOBER 15!

Can't attend? No problem! Register and we will send you a link to the recording after the event.

The Mastermind Genomic Search Engine is updated weekly with the latest genomic research. Mastermind Basic Edition is free, no credit card required. Get your account now and join us for the Masterclass!

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Blog: How to View Mastermind Results in GO Pathology Workbench

GO Pathology Workbench by GenomOncology is an end-to-end solution that integrates directly with lab sequencers, annotates detected variants, matches patients to clinical trials, provides data on recommended and adverse therapies, and produces a comprehensive summary report.

Read the new Connections blog on how you can view Mastermind results from GO Pathology Workbench:

READ THE BLOG

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Connect with us at the ASHG 2020 Virtual Meeting

ASHG 2020 will take place October 27-30 using a dynamic and interactive virtual platform. Our team is looking forward to attending the world’s largest online gathering of human genetics and genomics professionals. Schedule a meeting with our leadership team to learn how Mastermind can increase and accelerate your diagnostic yield.

SCHEDULE A MEETING

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Genomenon Appoints Elizabeth Varga as Director of Customer Success

We’re pleased to announce that Elizabeth Varga has joined the leadership team as Director of Customer Success. In this newly created role, Liz will work closely with our clients and users to ensure that they are receiving the best value and experience from the Mastermind software suite of genomic solutions.

READ THE PRESS RELEASE

Great things are happening every day in Genomics! Here are some studies that caught our eye in September.

New Genetic Analysis Method Could Advance Personal Genomics

Geneticists could identify the causes of disorders that currently go undiagnosed if standard practices for collecting individual genetic information were expanded to capture more variants that researchers can now decipher, concludes new Johns Hopkins University research.

Read the Article in Eureka Alert

Read the Study in Science

Investigational Drug Found to Slow ALS Disease Progression

An investigational drug for treating amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig's disease, has been shown to slow the progression of the disease, according to a study published in the New England Journal of Medicine. According to the researchers, these results provide hope for a future treatment for ALS, which is a fatal disease that currently has no cure.

Read the Article in Pharmacy Times

Read the Study in the New England Journal of Medicine

Pilot Project Shows Value of Genome Sequencing of Kids in ICU

Rady Children’s Institute for Genomic Medicine recently completed a two-year pilot project with the state of California that demonstrated its use of rapid whole genome sequencing in real-world hospital neonatal and pediatric intensive care units can not only improve outcomes but also save money.

Read the Article in Rare X

Read the Report in Rady Genomics

Explore & Discover!
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Genomenon : September Genomics Roundup from Genomenon

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