Data Science Garage: Building Tools for Genomics Research
Kyle Ellrott, Nasim Sanati, Quinn Wai Wong, Liam Beckman
PyCascades 2025 — Sunday February 9, 2025


Where We Work
Knight Cancer Research Building @ South Waterfront


Across from OMSI and right by Tilikum Crossing



Scientific Problem
How can we find actionable insights in a disease as complex as cancer?

Scientific Problem
How do we integrate data to extract meaningful insights?
-
ETL (Extract, Transform, Load)
-
FHIRizer – Transforms GDC, Cellosaurus, HTAN data into FHIR graph representation.
-
Snakemake & Airflow – Automate and orchestrate ETL workflows.
-
Bringing It All Together with Python
Data Standards, ETL, and Management
-
Management
GRaph Integration Platform (GRIP) - a powerful graph query engine designed to span across multiple database backends.
Gen3 – Data commons for storage, querying, and management.
-
Standards
-
Pydantic – Validates and enforces FHIR schema.
-
GA4GH (Global Alliance for Genomics & Health) – Establishes global standards for genomic data interoperability.
-
Pathway Databases (Pathway Commons, Reactome) – Structure & standardize biological context through molecular interaction graphs.
-




Management
ETL
Standards
Bringing It All Together with Python
Data Standards, ETL, and Management

GRIP & FHIR
Querying TCGA BRCA Data with subtype labels for classification
Subtype Classification with Neural Networks
ML modeling and Shapley Feature Extraction
Pathway Enrichment Analysis
Extracting Biological Insights from Gene Set Results
Nasim Sanati (she/her)
Computational Biologist
@teslajoy
Quinn Wai Wong (he/him)
Research Software Eng.
@quinnwai
Kyle Ellrott (he/him)
PI + Associate Professor
@kellrott
Liam Beckman
Research Software Eng.
@lbeckman314


Brian Walsh (he/him)
Sr. Research Software Eng.
@bwalsh

Jordan Tagle (she/her)
Computational Biologist
@jordan2lee
Matthew Peterkort (he/him)
Research Software Eng.
@matthewpeterkort

Data Science Garage Team


Code + Stunning Sunrise + Local Coffee + Great Team
Follow us along @ https://ellrottlab.org/


Code + Slides!
pycascades_25
By teslajoy
pycascades_25
- 127