CoolFace
Datasetpublic

Fernandosr85/adaption-ptpn11-tier1-variant-assessments

This dataset is a remastered version prepared using Adaption's Adaptive Data platform. adaption-ptpn11_tier1_variant_assessments This dataset contains research-level assessments of PTPN11 missense variants assigned to 'Tier 1' priority based on strict computational evidence filters. Each entry provides structured interpretations including CADD PHRED scores, AlphaMissense predictions, gnomAD frequencies, and functional domain contexts for the SHP-2 protein. The content focuses… See the full description on the dataset page: https://huggingface.co/datasets/Fernandosr85/adaption-ptpn11-tier1-variant-assessments.

sourceHugging Faceupdated 5mo agoView on Hugging Face
0likes13downloads
Dataset Card

banner

This dataset is a remastered version prepared using Adaption's Adaptive Data platform.

adaption-ptpn11tier1variant_assessments

This dataset contains research-level assessments of PTPN11 missense variants assigned to 'Tier 1' priority based on strict computational evidence filters. Each entry provides structured interpretations including CADD PHRED scores, AlphaMissense predictions, gnomAD frequencies, and functional domain contexts for the SHP-2 protein. The content focuses on variants associated with Noonan Syndrome, emphasizing structural rationale and prioritization for functional follow-up without making clinical classifications.

Dataset size

There are 338 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 37.1%.

Domain

  • —Science (80%)
  • —Medical (12%)
  • —Other (4%)

Language

  • —English (100%)

Tone

  • —Technical (76%)
  • —Analytical (20%)
  • —Professional (4%)

Evaluation Results

  • —Quality Gains: <img src="https://proteus-prod-public.s3.us-east-1.amazonaws.com/temp/2c7aa6b4-e30d-4f07-a561-d67dfd29d1bf.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/51286124-3dcb-4de2-90ea-67f9d7d8156e.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/0ceff047-1be6-4d0f-9a0d-af8ab290cd9b.png" alt="Percentile Chart" style="max-width: 50%; display: block; margin-left: auto; margin-right: auto;" />