#3 · ML / AI methods
Cross-cohort tests expose limits of EEG, vocal, and transcriptomic biomarkers
The common thread is whether biomarkers and representations hold beyond the cohorts used to derive them. A population-aware EEG framework for Parkinson's detection enumerates 75 cross-cohort train/test configurations, making evaluation design the object of study rather than a reporting detail. A published study on resting EEG complexity predicts single-session iTBS responses with 81% accuracy internally, but accuracy drops on external testing and the approach fails to generalize. A blood transcriptomic study introduces temporal entropy to flag unstable dynamics and improve psychiatric classification across public cohorts. Entropy-based vocal features improve depression detection over pooled acoustic baselines (AUC 0.646 vs 0.593), though on DAIC-WOZ alone. Independent-component encoding of fMRI from LLM representations extends the representational line in a different direction.
Published papers
HGVD: Human Genetic Variation Database update 2026 with sequencing of 4344 genetically diverse Japanese individuals.
HGVD v3.1 expands a Japanese allele-frequency database with 4344 individuals, multi-assembly JBrowse views, eQTLs, SV release, and a pathSTR tandem-repeat…
Preprints
Somatic variant detection using an individual-specific pangenome reference: a case study of a pediatric acute myeloid leukemia patient
Compares somatic variant calling on hg38 versus an individual-specific pangenome in a pediatric AML case, bulk and single-cell; fewer false-positive indels and…
mito-overview: a mitochondrial report software
mito-overview is a software tool that integrates mtDNA coverage, allele fractions, annotations and long-read co-occurrence into mitochondrial genomic reports…
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