#variant prioritization — top 20, last 30d
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Automated reanalysis of genomic data for rare disease diagnostics at scale.
(nature.com)
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Nature Medicine 2026-06-24 | #variant prioritization #rare disease #diagnostics #automation #genomics | |
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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 |