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Fernandosr85/adaption-rasopathy-vus-tier1-reports-v1

This dataset is a remastered version prepared using Adaption's Adaptive Data platform. adaption-rasopathy_vus_tier1_reports This dataset contains structured reports summarizing computational prioritization evidence for Tier 1 Variants of Uncertain Significance (VUS) in RASopathy-associated genes. Each entry details investigation scores, CADD PHRED values, and gene-disease validity classifications from ClinGen and GenCC. The reports explicitly clarify that Tier 1 status… See the full description on the dataset page: https://huggingface.co/datasets/Fernandosr85/adaption-rasopathy-vus-tier1-reports-v1.

sourceHugging Faceupdated 3mo agoView on Hugging Face
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