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Three repositories that represent my current focus in statistical genetics and precision medicine:

  1. patient-trial-enrichment — Pipeline for stratifying patients and enriching clinical trials using polygenic risk scores. Used to cut enrollment timelines by ~50% in Phase 2 programs.

  2. coloc-qtl-pipeline — Statistical genetics workflow for colocalizing QTLs with GWAS hits. Core method for prioritizing causal variants and interpreting functional consequences.

  3. gwas-functional-annotation — Locus visualization and functional annotation for interpreting GWAS associations in therapeutic context.


Sahar Esmaeeli, PhD

Genomics | Precision Medicine | Translational Bioinformatics

I lead genetics and bioinformatics programs that connect GWAS, multi‑omics, and clinical data to decisions in patient stratification, trial enrichment, and biomarker strategy. I have 15+ years across biotech and pharma, with hands‑on delivery and cross‑functional leadership.

Highlights

  • Built a PRS based enrollment enrichment approach that reduced screening failures and cut planned Phase 2 timelines by about 50 percent
  • Co led an NGS companion diagnostic with QIAGEN through CLIA CAP handoff
  • Led multi‑omics evidence pipelines and knowledge graph work to accelerate target and biomarker decisions
  • Delivered production ML and analytics with engineering, including testing, versioning, and monitoring

Focus areas

  • Translational genetics strategy and study design
  • Patient stratification, trial enrichment, and biomarker development
  • Biobank scale analytics, GWAS, PRS, and colocalization
  • Multi‑omics and clinical integration with decision‑grade reporting
  • Production ML and analytics with engineering standards

Tech

  • Python, R, bash
  • GWAS and QTL data wrangling and colocalization
  • Reproducible analysis structure using notebooks, src, and reports

Contact

Pinned Loading

  1. coloc-qtl-pipeline coloc-qtl-pipeline Public

    Statistical genetics workflow for QTL colocalization with GWAS summary statistics.

    Python

  2. gwas-functional-annotation gwas-functional-annotation Public

    GWAS locus visualization and functional annotation workflows for variant interpretation.

    Python

  3. patient-trial-enrichment patient-trial-enrichment Public

    Statistical genetics pipeline for patient stratification and clinical trial enrichment using polygenic risk scores.

    Python