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Fernandosr85/adaption-rasopathy-vus-tier1-reports

This dataset is a remastered version prepared using Adaption's Adaptive Data platform. adaption-rasopathy_vus_tier1_reports This dataset contains structured clinical reports for Tier 1 prioritized variants of uncertain significance (VUS) within RASopathy-associated genes like PTPN11, SOS1, and RAF1. Each entry details computational evidence metrics, including investigation scores and CADD PHRED values, alongside ClinGen gene-disease validity classifications. The reports… See the full description on the dataset page: https://huggingface.co/datasets/Fernandosr85/adaption-rasopathy-vus-tier1-reports.

sourceHugging Faceupdated 3mo agoView on Hugging Face
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This dataset is a remastered version prepared using Adaption's Adaptive Data platform.

adaption-rasopathyvustier1_reports

This dataset contains structured clinical reports for Tier 1 prioritized variants of uncertain significance (VUS) within RASopathy-associated genes like PTPN11, SOS1, and RAF1. Each entry details computational evidence metrics, including investigation scores and CADD PHRED values, alongside ClinGen gene-disease validity classifications. The reports explicitly clarify that Tier 1 status indicates high priority for functional investigation rather than a final ACMG/AMP clinical reclassification.

Dataset size

There are 163 data points in this dataset. This is an instruction tuning dataset.

Quality of Remastered Dataset

The final quality is A, with a relative quality improvement of 5.6%.

Domain

  • —Medical (94%)
  • —Science (6%)

Language

  • —English (100%)

Tone

  • —Technical (66%)
  • —Cautious (18%)
  • —Analytical (10%)

Evaluation Results

  • —Quality Gains: <img src="https://proteus-prod-public.s3.us-east-1.amazonaws.com/temp/72b8270e-5c29-4ca9-9c42-5e629274f6de.png" alt="QualityGains" style="max-width: 50%; display: block; margin-left: auto; margin-right: auto;" />
  • —Grade Improvement: <img src="https://proteus-prod-public.s3.us-east-1.amazonaws.com/temp/003023a0-77a3-4bba-a5b9-c7f7e421709b.png" alt="Grade" style="max-width: 50%; display: block; margin-left: auto; margin-right: auto;" />
  • —Percentile Chart: <img src="https://proteus-prod-public.s3.us-east-1.amazonaws.com/temp/4f196b0d-2c95-4349-bc21-7630cab36fcb.png" alt="Percentile Chart" style="max-width: 50%; display: block; margin-left: auto; margin-right: auto;" />