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SIMLINK Enables Accurate Variant Pathogenicity Prediction through Modeling the Gene-Variant-Feature Association Structure.
(academic.oup.com)
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Bioinformatics 2026-08-10 | #variants #pathogenicity #prediction #genetics #machine learning | |
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Rapid resolution of variants of uncertain significance (VUS). A complementary role for zebrafish in the era of multi-million-dollar therapies.
(nature.com)
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npj Genomic Medicine 2026-08-10 | #variants #pathogenicity #precision medicine #gene therapy | |
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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 |