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polygenic-risk-scores

v0.1.3

Published

Utilities for fetching/parsing PGS Catalog scores and 23andMe data for PRS workflows.

Downloads

181

Readme

polygenic_risk_scores SDK

A browser-native and Node-compatible JavaScript SDK and demo application for calculating polygenic risk scores (PRS) from 23andMe and PGS Catalog data.

Live demo: https://lorenasandoval88.github.io/polygenic_risk_scores/


Overview

This toolkit enables:

  • Automated retrieval and parsing of 23andMe and PGS Catalog data
  • Calculation of polygenic risk scores (PRS) for local or public genomes
  • Browser-based and Node.js/Cloud Run compatible workflows
  • Simple developer APIs for PRS research and visualization

Quick Start

Browser SDK

// ESM direct import (browser)
const sdk = await import("https://lorenasandoval88.github.io/polygenic_risk_scores/dist/sdk.mjs");
// or via npm: import { fetchAllScores, fetchTraits, getTxts } from "polygenic_risk_scores";

Node/Cloud Run SDK

// ESM direct import (Node/Cloud Run)
const sdk = await import("https://lorenasandoval88.github.io/polygenic_risk_scores/dist/cloud_sdk.mjs");
// or via npm: import { fetchAllScores, ... } from "polygenic_risk_scores/cloud_sdk.mjs";

Architecture

polygenic_risk_scores/
├── src/
│   ├── app/           # Browser app entry and UI wiring
│   ├── sdk/           # Reusable SDK modules (PGP, PGS, PRS)
│   └── css/           # App styles
├── data/              # Local 23andMe-compatible genome files
├── dist/              # Rollup build outputs
│   ├── sdk.mjs        # Browser SDK
│   └── cloud_sdk.mjs  # Node-safe SDK
├── sdk.js             # Public SDK entrypoint
├── index.html         # Web interface
├── rollup.config.js   # Build configuration
├── package.json       # Project dependencies and scripts
└── README.md          # Documentation

| Directory/File | Purpose | | -------------------- | -------------------------------------------------------- | | src/app/ | Browser app entry and UI logic | | src/sdk/ | SDK modules for PGP, PGS, PRS | | src/css/ | Stylesheets | | data/ | Local genome files | | dist/ | Compiled SDK outputs (browser & node) | | sdk.js | Public API entry point | | index.html | Web interface | | rollup.config.js | Bundler configuration | | package.json | Project dependencies and scripts | | README.md | Documentation |


Core Functions

Public API Functions

| Function | Description | |---|---| | fetchAllScores() | Fetch all PGS Catalog scores | | fetchSomeScores(ids) | Fetch specific PGS scores by ID | | fetchTraits() | Fetch trait metadata | | getScoresPerTrait() | Get scores grouped by trait | | getScoresPerCategory() | Get scores grouped by category | | getTxts(ids) | Fetch and parse PGS text files | | estimateLocalForageSizeKB() | Estimate LocalForage storage size (Browser only) | | checkStorageKB() | Check storage usage and quota (Browser only) | | getTextSizeKB(text) | Calculate text size in KB (Browser only) | | fetchAvailableDataTypes() | List available data types | | allUsersMetaDataByType_fast() | Get user metadata by type | | fetchProfile(id) | Fetch a user profile | | load23andMeFile(path, id, cache) | Load and parse a 23andMe file | | Match2(pgsTxt, my23Txt) | Calculate PRS (2-input) | | Match3(pgsTxt, my23Txt) | Calculate PRS (3-input) |

SDK Availability:

  • Browser SDK (sdk.mjs): All functions above
  • Node SDK (cloud_sdk.mjs): All functions except browser-only storage utilities (estimateLocalForageSizeKB, checkStorageKB, getTextSizeKB)

Usage Example

import { fetchAllScores, fetchTraits, getTxts } from "polygenic_risk_scores";

const scores = await fetchAllScores();
const traits = await fetchTraits();
const txts = await getTxts(["PGS000001"]);

Build

Run npm run build to generate:

  • dist/sdk.mjs (browser SDK)
  • dist/cloud_sdk.mjs (Node-safe SDK)

Run

  • Open index.html with a local static server (e.g. VS Code Live Server)
  • For API calls, use the browser or Node SDK as shown above

License

MIT