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.
Curating The Human Genome – What It Will Mean and How We Can Make It Happen
The Human Genome Project, begun in 1990 and completed in 2003, was a major breakthrough for clinical genetics – the sequence of the human genome was no longer a mystery.
Curation of the Entire Human Genome Requires the Best of Both Human and Artificial Intelligence
Earlier this month, I wrote an opinion article for Technology Networks on how a combination of both human and artificial intelligence technologies have the potential to expedite curation of the entire human genome – and how Genomenon is uniquely suited to address this important challenge.
Accelerating Rare Disease Diagnosis with Genomic Data
Genomenon CEO, Mike Klein, shares how Mastermind’s new Disease-Specific Curated Content is helping clinicians discover new treatment options for rare diseases.