#rare-diseases — top 20, last 30d
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Cell type-specific contextualisation of the human phenome: towards the systematic treatment of all rare diseases.
(link.springer.com)
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Genome Medicine 2026-06-26 | #transcriptomics #rare-diseases #phenotyping #cell-type #gene therapy | |
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RankVar: machine learning-based variant ranking and reinterpretation for rare genetic diseases.
(link.springer.com)
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Genome Medicine 2026-07-04 | #variant prioritization #machine learning #rare-diseases #sequencing #genomics |