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docs: fix formatting of repository architecture and quickstart code blocks in README
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README.md
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# Genomic Foundation AI & Clinical Variant Effect Prediction Engine
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An open-source, production-grade genomic foundation AI software system designed to predict the pathogenicity, functional consequence, and zero-shot evolutionary fitness scores of human genetic mutations and single-nucleotide variants (SNVs).
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---
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## Key Engineering Features
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1. **Custom Genomic Tokenizer**: Overlapping k-mer (
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2. **Multi-Head Self-Attention Transformer**: PyTorch-native transformer encoder with positional encoding, Gelu activations, and dual prediction heads (Supervised Pathogenicity Classification + Masked LM Head).
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3. **Zero-Shot Evolutionary Fitness Delta-Scoring**: Computes Log-Likelihood Ratio (LLR) scoring:
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Delta Score = log P(Wildtype) - log P(Mutant)
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Quantifying sequence disruption without supervised training labels (methodology aligned with *DeepMind AlphaMissense* and *Meta ESM1v*).
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4. **Production FastAPI Service**: High-throughput REST API with automated validation schemas for downstream clinical pipelines.
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5. **Interactive Web Dashboard**: Streamlit interface with sequence mismatch mapping, risk gauges, and preset clinical mutations (*TP53*, *BRCA1*, *EGFR*, *KRAS*, *CFTR*).
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---
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## Repository Architecture
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variantllm/
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`
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---
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## Quick Start
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### 1. Installation
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`ash
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## Benchmark Performance on ClinVar
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| Metric | Score |
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| **ROC-AUC** | **0.
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| **PR-AUC** | **0.
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| **Accuracy** | **89.6%** |
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| **F1-Score** | **0.912** |
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---
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## Citation & License
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Distributed under the **MIT License**. Created by [Hardik Sood](https://github.com/hardiksood21).
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# 𧬠VariantLLM: Genomic Foundation AI & Clinical Variant Effect Prediction Engine
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[](https://www.python.org/downloads/)
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[](https://pytorch.org/)
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[](https://opensource.org/licenses/MIT)
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[](https://fastapi.tiangolo.com)
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[](https://streamlit.io)
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An open-source, production-grade genomic foundation AI software system designed to predict the pathogenicity, functional consequence, and zero-shot evolutionary fitness scores of human genetic mutations and single-nucleotide variants (SNVs).
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---
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## π Key Engineering Features
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1. **Custom Genomic Tokenizer**: Overlapping k-mer (=3, 6$) and character-level tokenization engine for raw DNA/RNA sequences with specialized biological vocabularies.
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2. **Multi-Head Self-Attention Transformer**: PyTorch-native transformer encoder with positional encoding, Gelu activations, and dual prediction heads (Supervised Pathogenicity Classification + Masked LM Head).
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3. **Zero-Shot Evolutionary Fitness Delta-Scoring**: Computes Log-Likelihood Ratio (LLR) scoring:
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\Delta \text{Score} = \log P(\text{Wildtype}) - \log P(\text{Mutant})
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Quantifying sequence disruption without supervised training labels (methodology aligned with *DeepMind AlphaMissense* and *Meta ESM1v*).
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4. **Production FastAPI Service**: High-throughput REST API with automated validation schemas for downstream clinical pipelines.
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5. **Interactive Web Dashboard**: Streamlit interface with sequence mismatch mapping, risk gauges, and preset clinical mutations (*TP53*, *BRCA1*, *EGFR*, *KRAS*, *CFTR*).
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---
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## ποΈ Repository Architecture
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` ext
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variantllm/
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βββ .github/
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β βββ workflows/
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β βββ tests.yml # Automated CI/CD workflow
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βββ app/
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β βββ app.py # Interactive Streamlit Web Application
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βββ data/
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β βββ processed/
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β β βββ clinvar_benchmark_sample.csv # Curated ClinVar clinical benchmark
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β βββ generate_data.py # Synthetic/Clinical variant generator
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βββ notebooks/
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β βββ train_benchmark.py # Benchmark training pipeline
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βββ src/
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β βββ variantllm/ # Core Python Package
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β βββ __init__.py
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β βββ api/
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β β βββ __init__.py
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β β βββ main.py # FastAPI REST API Microservice
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β βββ inference/
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β β βββ __init__.py
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β β βββ scorer.py # Zero-Shot LLR Evolutionary Scorer
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β βββ models/
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β β βββ __init__.py
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β β βββ variant_transformer.py # PyTorch Multi-Head Attention Transformer
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β βββ tokenization/
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β β βββ __init__.py
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β β βββ genomic_tokenizer.py # k-mer & Character Genomic Tokenizers
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β βββ training/
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β βββ __init__.py
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β βββ dataset.py # PyTorch Dataset Loader
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β βββ trainer.py # Focal Loss & Cosine Annealing Trainer
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βββ tests/
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β βββ test_api.py # FastAPI endpoint test suite
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β βββ test_inference.py # Zero-shot scoring test suite
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β βββ test_model.py # Transformer forward pass test suite
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β βββ test_tokenizer.py # Tokenizer encoding test suite
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βββ LICENSE # MIT License
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βββ pyproject.toml # Modern Python package configuration
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βββ README.md # Project documentation
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βββ requirements.txt # Project dependencies
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`
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---
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## π Quick Start
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### 1. Installation
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`ash
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---
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## π¬ Benchmark Performance on ClinVar
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| Metric | Score | Clinical Significance |
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| **ROC-AUC** | **0.948** | Exceptional discrimination between pathogenic & benign mutations |
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| **PR-AUC** | **0.977** | Outstanding precision-recall across imbalanced genomic variants |
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| **Accuracy** | **89.6%** | High fidelity across multi-gene clinical cohorts |
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| **F1-Score** | **0.912** | Robust harmonic mean of precision and recall |
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---
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## π Citation & License
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Distributed under the **MIT License**. Created by [Hardik Sood](https://github.com/hardiksood21).
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