#neurological — Monday, August 10, 2026 (3 items)
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CoCoRV-nf: a powerful and cost-effective tool for rare variant analysis leveraging external biobank sequence data identified new candidate predisposition genes in amyotrophic lateral sclerosis and neuroblastoma.
(academic.oup.com)
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Human Molecular Genetics 2026-08-10 | #sequencing #rare variants #neurological #biobank #burden-analysis | |
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Mega-enhancers compartmentalize transcriptionally active long genes in the brain.
(nature.com)
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Nature Cell Biology 2026-08-10 | #enhancer #transcriptomics #chromatin #neurological #neuron | |
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The pseudouridine synthase PUSL1 modifies U39 of mitochondrial tRNAs and is linked to human neurological phenotypes.
(academic.oup.com)
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Nucleic Acids Research 2026-08-10 | #mitochondrial #rna #pseudouridylation #neurological #variants |