Mathew Koretsky
@mkoretsky1
Data and software engineer | @DataTecnica | @NIH | @uvmvermont alum
Koretsky et al. use genome-wide data to cluster patients based on genetic status across risk variants for five neurodegenerative disorders. The results suggest that neurodegenerative diseases have more overlapping genetic aetiology than previously assumed. tinyurl.com/yt39brkt
Genetic risk factor clustering within and across neurodegenerative conditions (such as #Parkinsons, #Alzheimers, #ALS) - from @HamptonLLeonard & colleagues; "Neurodegenerative diseases have more overlapping genetic etiology than previously expected" academic.oup.com/brain/advance-…
Been a great day for publications from the team. @mkoretsky1 and the team great job on showing genetic overlap and in some instances a depletion of genetic risk across and within neurodegenerative diseases.
Genetic risk factor clustering within and across neurodegenerative conditions (such as #Parkinsons, #Alzheimers, #ALS) - from @HamptonLLeonard & colleagues; "Neurodegenerative diseases have more overlapping genetic etiology than previously expected" academic.oup.com/brain/advance-…
🚨New LLM benchmark🚨 We're releasing BiomedSQL🔬 for tabular reasoning over large-scale biomedical databases. This includes questions based on implicit scientific conventions—like statistical thresholds, effect direction, and drug approval status. 📄 Preprint:…
Long-form inputs (e.g., needle-in-haystack setups) are the crucial aspect of high-impact LLM applications. While previous studies have flagged issues like positional bias and distracting documents, they've missed a crucial element: the size of the gold/relevant context. In our…
Great work from many of our teammates! Let's accelerate data harmonization!
A new AI-assisted data standard accelerates interoperability in biomedical research medrxiv.org/cgi/content/sh… #medRxiv
GenoTools: An Open-Source Python Package for Efficient Genotype Data Quality Control and Analysis biorxiv.org/cgi/content/sh… #biorxiv_genomic