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Genomics
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Genomics

Publications

The ClinVar Conflict Atlas

Measuring the severity, distribution, and observed persistence of germline classification disagreement across three preserved ClinVar snapshots.

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Genomics

Research Notes

AlphaGenome Atlas in RNU4-2: a focused computational benchmark

We compared AlphaGenome Atlas variant-impact scores with published experimental effects in RNU4-2. A focused benchmark of 435 transcript variants, with reproducible analysis and clearly stated limits.

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