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Zsofia Sztupinszki

M.D., Ph.D.  ·  Research Fellow, Harvard Medical School

Cancer Genomics  ·  DNA Repair  ·  Precision Medicine

About Zsofia Sztupinszki

Zsofia Sztupinszki, M.D., Ph.D. — Research Fellow at Harvard Medical School
Boston, MA
zsofia[dot]sztupinszki[at]childrens[dot]harvard[dot]edu
Harvard Medical School Boston Children's Hospital, Computational Health Informatics Program Danish Cancer Institute

I am a physician-scientist with a background in oncology, cancer genomics, computational medicine, and artificial intelligence. I am currently a Research Fellow at Harvard Medical School and Boston Children's Hospital in the Computational Health Informatics Program, and an affiliate researcher at the Danish Cancer Institute.

My research focuses on using computational biology, machine learning, and AI to study cancer genomics and develop clinically relevant biomarkers. Over the years, I have worked on several areas of cancer research, including DNA repair deficiencies such as homologous recombination deficiency (HRD) and nucleotide excision repair (NER) defects, immuno-oncology, liquid biopsies, computational pathology, and the use of large language models in medicine and scientific discovery.

I developed scarHRD, an R package for estimating HRD from tumor sequencing data. It has been used and cited in more than 300 scientific publications. I also created TCGA Explorer, a no-code platform that allows researchers to analyse data across 30 TCGA cancer types without programming. My aim with these tools is to make cancer data analysis more accessible, reproducible, and useful for researchers and clinicians.

I have published 52 peer-reviewed papers, with more than 2,200 citations and an h-index of 25 on Google Scholar. I am also an inventor on patent WO2021195390A2.

I also write and make videos about integrating AI and large language models into real research workflows — from everyday LLM use and AI co-scientists to agentic coding — with a focus on doing so productively and responsibly. See Writing & Talks.

  • Machine Learning in Cancer Genomics
  • Biomarker Discovery
  • NGS Data Analysis
  • Statistical Modeling
  • DNA Repair Deficiencies
  • Cancer Immunology
  • Precision Medicine
  • Clinical Diagnostics

Research

My research aims to identify DNA repair deficiencies and develop companion diagnostics through computational approaches. I integrate medical expertise with machine learning and statistical modeling to advance cancer treatment.

  • Developed a bioinformatics method to estimate homologous recombination deficiency (used and cited in more than 300 publications)
  • Identified HR- and NER-deficient prostate, bladder, and ovarian cancers
  • Led research in oncoimmunology, exploring the gut microbiome's role in checkpoint inhibitor therapy
  • Translating genomic insights into clinical applications and biomarker development

Research Tools

TCGA Explorer

No-Code Cancer Genomics Platform

Open App ↗

A browser-based platform for cancer genomics research — type a gene, run pan-cancer analyses across all 30 TCGA cancer types, and download comprehensive HTML reports. No coding required. Designed for researchers, bioinformaticians, and clinicians.

Gene Expression

Pan-cancer expression across 30 TCGA cohorts + GTEx normal tissue comparisons

Survival Analysis

Cox regression and Kaplan-Meier curves across 4 survival endpoints

Molecular Features

Immune infiltration scores, mutational signatures (COSMIC v2/v3/Indel)

Differential Expression

DESeq2 analysis with GSEA enrichment and pathway annotation

Pathway Enrichment

ssGSEA explorer using MSigDB pathways; async background jobs (10–90 min) with downloadable HTML reports

Coverage: All 30 TCGA cancer types · GTEx normal tissue · COSMIC v2/v3/Indel · MSigDB pathways

scarHRD R Package ↗

Open-source R package for estimating homologous recombination deficiency from tumor sequencing data

Writing & Talks

See all →

Practical, honest notes and videos on using AI and large language models in real biomedical research — no hype, no AI slop.

Selected Publications