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Fernandosr85/adaption-shoc2-ns-lah-variant-reports

This dataset is a remastered version prepared using Adaption's Adaptive Data platform. adaption-shoc2_ns_lah_variant_reports This dataset contains structured research-level assessments of SHOC2 missense variants associated with Noonan Syndrome with Loose Anagen Hair (NS-LAH). Each entry provides a detailed interpretation including computational scores (CADD, AlphaMissense), population frequency, LRR domain context, and SMP complex proximity. The reports preserve source-derived… See the full description on the dataset page: https://huggingface.co/datasets/Fernandosr85/adaption-shoc2-ns-lah-variant-reports.

sourceHugging Faceupdated 5mo agoView on Hugging Face
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This dataset is a remastered version prepared using Adaption's Adaptive Data platform.

adaption-shoc2nslahvariantreports

This dataset contains structured research-level assessments of SHOC2 missense variants associated with Noonan Syndrome with Loose Anagen Hair (NS-LAH). Each entry provides a detailed interpretation including computational scores (CADD, AlphaMissense), population frequency, LRR domain context, and SMP complex proximity. The reports preserve source-derived Tier 1 prioritization labels and investigation scores for functional follow-up without making clinical classifications.

Dataset size

There are 158 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 21.2%.

Domain

  • —Science (71%)
  • —Medical (24%)
  • —Other (5%)

Language

  • —English (100%)

Tone

  • —Technical (95%)
  • —Analytical (5%)

Evaluation Results

  • —Quality Gains: <img src="https://proteus-prod-public.s3.us-east-1.amazonaws.com/temp/0dc92e02-1f00-4408-9df4-412819466dc3.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/dc5944eb-0c7a-46cb-aee2-485d0066cab6.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/18c70f17-a42f-4e97-9e9b-f2644e75d1f2.png" alt="Percentile Chart" style="max-width: 50%; display: block; margin-left: auto; margin-right: auto;" />