Skip to content
View esmaesx's full-sized avatar

Block or report esmaesx

Block user

Prevent this user from interacting with your repositories and sending you notifications. Learn more about blocking users.

You must be logged in to block users.

Maximum 250 characters. Please don't include any personal information such as legal names or email addresses. Markdown supported. This note will be visible to only you.
Report abuse

Contact GitHub support about this user’s behavior. Learn more about reporting abuse.

Report abuse
esmaesx/README.md

Start here

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