Gabe Rudy
@gaberudy.bsky.social
Build clinical genetics software @ Golden Helix. Rare variant analysis, data science, precision medicine and the caring about good design and user experience.
1/ 🧵 I built a wall-mounted e-paper family calendar over Labor Day weekend: ESP32 + 12.48″ tri-color E-ink display. Node/TS renders a dashboard → headless Firefox → PNG → quantize to BW+Red → upload to the panel.
September 1, 2025 at 5:47 PM
1/ 🧵 I built a wall-mounted e-paper family calendar over Labor Day weekend: ESP32 + 12.48″ tri-color E-ink display. Node/TS renders a dashboard → headless Firefox → PNG → quantize to BW+Red → upload to the panel.
Reposted by Gabe Rudy
Large language models are less effective at clinical prediction tasks than locally trained machine learning models academic.oup.com/jamia/advanc... #llms #machinelearning #MLSky (not surprising but important to document)
Large language models are less effective at clinical prediction tasks than locally trained machine learning models
AbstractObjectives. To determine the extent to which current large language models (LLMs) can serve as substitutes for traditional machine learning (ML) as
academic.oup.com
April 8, 2025 at 6:17 PM
Large language models are less effective at clinical prediction tasks than locally trained machine learning models academic.oup.com/jamia/advanc... #llms #machinelearning #MLSky (not surprising but important to document)
New favorite past time: Ghiblifing family photos!
March 26, 2025 at 12:31 AM
New favorite past time: Ghiblifing family photos!
Reposted by Gabe Rudy
We're thrilled to announce a multi-year partnership with all Danish healthcare regions, advancing precision medicine on a national scale!
Read more: yhoo.it/3FfdB3P
#PrecisionMedicine #Genomics #ClinicalGenomics #NGS
Read more: yhoo.it/3FfdB3P
#PrecisionMedicine #Genomics #ClinicalGenomics #NGS
March 10, 2025 at 5:43 PM
We're thrilled to announce a multi-year partnership with all Danish healthcare regions, advancing precision medicine on a national scale!
Read more: yhoo.it/3FfdB3P
#PrecisionMedicine #Genomics #ClinicalGenomics #NGS
Read more: yhoo.it/3FfdB3P
#PrecisionMedicine #Genomics #ClinicalGenomics #NGS
Reposted by Gabe Rudy
This is important work! Whole genomes are becoming more commonly in genetic testing. Having near-linear strategies for scaling cohort VCFs is crucial.
The proposed method has merit, but requires tools to implement awareness of the new SVCR-VCF cohort representation.
The proposed method has merit, but requires tools to implement awareness of the new SVCR-VCF cohort representation.
The Scalable Variant Call Representation: Enabling Genetic Analysis Beyond One Million Genomes. #VariantCalling #VCF #ScalableVariantCall #SVCR #Genomics #Bioinformaitcs 🧬 🖥️
academic.oup.com/bioinformati...
academic.oup.com/bioinformati...
The Scalable Variant Call Representation: Enabling Genetic Analysis Beyond One Million Genomes
AbstractMotivation. The Variant Call Format (VCF) is widely used in genome sequencing but scales poorly. For instance, we estimate a 150,000 genome VCF wou
academic.oup.com
January 7, 2025 at 1:36 PM
This is important work! Whole genomes are becoming more commonly in genetic testing. Having near-linear strategies for scaling cohort VCFs is crucial.
The proposed method has merit, but requires tools to implement awareness of the new SVCR-VCF cohort representation.
The proposed method has merit, but requires tools to implement awareness of the new SVCR-VCF cohort representation.
Reposted by Gabe Rudy
Yes, I’m religious. I believe in the Holy Trinity.
November 30, 2024 at 12:33 AM
Yes, I’m religious. I believe in the Holy Trinity.
The American Computer & Robotics museum in Bozeman is a real treasure. Don’t miss it if you are visiting Montana. Small but mightily collection and great hands on events. I take the kids regularly and talk them through the iconic pieces and generations of tech.
November 25, 2024 at 3:17 AM
The American Computer & Robotics museum in Bozeman is a real treasure. Don’t miss it if you are visiting Montana. Small but mightily collection and great hands on events. I take the kids regularly and talk them through the iconic pieces and generations of tech.