Mastermind Update: Finding Your Supplemental Match
The Mastermind team has released its latest update to the Genomic Search Engine platform, which aims to help users find their supplemental match and filter by PMID. This update is a significant development for Mastermind, as it takes into account user feedback to provide more personalized and accurate search results.
Mastermind User Group Recap – Salt Lake City, Spring 2023
Last week, the Genomenon team hosted its inaugural User Group Meeting in Salt Lake City. For us, this highly anticipated gathering of Mastermind users was truly special as it marked the beginning of an exciting new tradition of learning and collaboration.
A Rare Breed: Focused on Rare Disease Therapeutics
For Rare Disease Day 2023, we celebrate 10 pharma and biotech companies that are working on cures and novel treatments for rare disease patients.
Why is Estimating Rare Disease Prevalence So Hard?
A recently published paper revealed that the prevalence of ENPP1 deficiency is more than triple the previous estimate. In this blog, co-author and Genomic Science Liaison Lauren Chunn explains why this paper is a must-read for orphan drug developers.
Discrepancies in Variant Classifications and How to Resolve Them
Variant classification discrepancies – where clinical laboratories and clinicians/genetic counselors disagree about the clinical meaningfulness of a variant – can impede the accurate diagnosis and subsequent treatment of patients.
ASHG and ICoNS – Event Recap and Insights from the CSO
Last week, I was in Los Angeles for ASHG. It was great to return in person after the pandemic pause to exchange ideas with industry and academic leaders in genetics. There is something irreplaceable about speaking face-to-face to make real connections and have lively discussions.