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Austin-s-h/README.md

Hey, I'm Austin — nice to meet you.

LinkedIn  Email  ORCID 

Computational Biologist & Bioinformatics Data Engineer · PhD, Genetics, Genomics & Development · Cornell University
Building scientific data infrastructure that informs rare disease drug decisions at Alexion (AstraZeneca) · Boston, MA
Expert across the full NGS spectrum — bulk, single-cell, spatial, and long-read — typed, tested, and deployed at scale.


🏢 Alexion Pharmaceuticals · AstraZeneca Rare Disease

As a Bioinformatics Data Engineer, I architect and operate the cloud genomics platform combining AWS, HPC, Seqera/Nextflow Tower, Databricks, and Quilt. I support a 10-member bioinformatics & AI/ML group. I design and deliver end-to-end NGS pipelines and regulatory-grade analytical reports that directly inform go/no-go decisions across rare disease genomic medicine programs, covering the full assay spectrum: bulk and single-cell RNA-Seq, scATAC-Seq, spatial transcriptomics, long-read sequencing, isoform assembly, custom library design, and UMI-aware workflows.

A flagship project: a FAIR metadata-powered genomic data catalog built on Quilt.bio, enhanced with a custom pydantic_ai metadata extraction workflow to enabling unlimited-scale rare-disease discovery across Alexion's existing sequencing corpus.


🔬 Open Source

  • sirnaforge — Multi-species siRNA/miRNA design toolkit with NGS workflow integration, ViennaRNA thermodynamic scoring, and comprehensive off-target prediction
  • quiltdata/quilt (contributor) — Active collaborator on the Quilt data catalog. Integrate feedback from users and suggest enhancements that benefit all. Open source science.
  • NC_Timecourse — Reproducible R analysis pipeline for the neural crest epigenomics study underlying the Dev. Cell 2022 publication

🧬 NGS Expertise

RNA-Seq · scRNA-Seq · scATAC-Seq · Spatial Transcriptomics · Long-Read / Nanopore / PacBio / Iso-Seq · Isoform Assembly · CRISPR / Gene Editing · siRNA & ASO Off-Target · ChIP-Seq / CUT&RUN / CUT&TAG · Hi-C · MPRA · UMI-aware workflows · nf-core


🛠 Stack

Core languages
Python  R  Bash  Swift 

Infrastructure & pipelines
Nextflow  Docker  AWS  Databricks  GitHub Actions  Cloudflare 

Python ecosystem
Pydantic  uv  ruff  pytest 

AI & ML
pydantic-ai  HuggingFace  PyTorch  OpenTelemetry 


DNA Gif · source · Badges · awesome-badges

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  1. sirnaforge sirnaforge Public

    siRNAforge - Multi-species gene to siRNA design, off-target prediction, and ranking. Comprehensive siRNA design toolkit for gene silencing

    Python 8

  2. copier-astral-nextflow copier-astral-nextflow Public

    Forked from ritwiktiwari/copier-astral

    Fast Modern Nextflow and Python project template with Astral's toolchain (uv, ruff, ty) + pytest, MkDocs, Typer, GitHub Actions, Docker, Nextflow

    Jinja 1

  3. NC_scATAC NC_scATAC Public

    A neural crest single cell ATAC analysis notebook

    HTML 2

  4. NC_Timecourse NC_Timecourse Public

    Updated git with cleaned NC_Timecourse Repo

    R 5 1