Author

Matthew T. Wheeler

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Open access Aug 2026

MetaDome 2027: a comprehensively updated resource for aggregating missense variant evidence across homologous human protein domains

The MetaDome 2027 update is presented, featuring a comprehensively updated dataset and GRCh38 support and showing how MetaDome helped reclassify a de novo missense VUS in RALA and identify 52,463 ClinVar missense VUS for which meta-domains supply otherwise unavailable pathogenic evidence.

Laurens Wiel, F. Ferraro, Jay Yu et al. · bioRxiv · 0 citations

Jul 2026

Autonomous biomedical research with an artificial intelligence agent.

Biomni envisions artificial intelligence augmenting human scientists and accelerating discovery by interpreting multi-modal datasets, optimizing protein stability, orchestrating wet-lab instruments, and generating experimentally testable protocols.

Kexin Huang, Serena Zhang, Hanchen Wang et al. · Science · 19 citations · ⚡2

Open access Aug 2026

BHLHE22 monoallelic and biallelic variants cause a neurodevelopmental disorder with agenesis of the corpus callosum, intellectual disability, abnormal muscle tone, and movement abnormalities

The data establish BHLHE22 as a previously unrecognized neurodevelopmental disease gene that results in a distinct syndrome characterised by abnormalities in brain development, cognition, tone and movement.

Carolyn Le, T. Kalaycı, Z. Uyguner et al. · Journal of Medical Genetics · 0 citations