Siwen Zhang
  • Professional Activities
  • Skills
  • Publications
  • CV

On this page

  • Precision Scientific · 2021–2024
    • Cancer auxiliary diagnosis enablement
    • Cell & gene therapy bioinformatics
    • Bioinformatics workflow automation
  • GrandOmics Biosciences · 2019–2021
    • Rare disease diagnosis
    • Pathogen surveillance and diagnosis
    • Sequencing technology benchmarking
  • Geneis Beijing · 2017–2019
    • Oncology Assay & Biomarker Panel Development
    • Multi-omics Analysis in Developmental Biology
    • Clinical Cancer Genomics & Survival Analysis

👩‍🏫 Professional Activities

I facilitate enablement programs so R&D, clinical, and data teams can run complex bioinformatics workflows with confidence.

Below is a snapshot of my interested fields and topics across recent roles.

Precision Scientific · 2021–2024

R&D | Middle bioinformatics engineer

Cancer auxiliary diagnosis enablement

2022-2024

  • MRD
  • HRD
  • WGD
  • ML
  • Pipeline
  • Analytics
  • Designed and productionized circulating tumor DNA–based Minimal Residule Diesase (MRD) pipelines (study design → feature engineering → data analysis → statistical reporting).
  • Delivered 4 clinical MRD studies and translated results into regulatory-ready reports; one outcome presented at SGO 2024; co-authored 2 manuscripts (one published).
  • Analyzed whole-genome doubling (WGD) using low-pass whole genome sequencing (WGS) in ~1Ă— coverage; standardized WGD definitions across four studies.
  • Built machine learning classifiers using platelet RNA-seq data to differentiate uterine sarcoma vs. leiomyoma; conducted end-to-end analysis workflow (RNA-seq preprocessing → feature engineering → model evaluation → biomarker detection).
  • Contributed to the national HRD reference standard project led by China’s National Institutes for Food and Drug Control.
Slides | Pipeline diagram | Example ROC/metrics

Cell & gene therapy bioinformatics

2023-2024

  • Cell therapy
  • AAV
  • Off-target
  • CRISPR
  • Built analysis workflows for viral integration site mapping, AAV mutation detection, and CRISPR off-target assessments.
  • Support product development and clinical trials for 5 cell & gene therapy products.
Slides | Pipeline diagram | Example ROC/metrics

Bioinformatics workflow automation

2021-2022

  • WDL/Cromwell
  • Cloud computing
  • Workflow automation
  • Designed and productionized an integrated bioinformatics pipeline for cancer genomics using the Workflow Description Language (WDL) and Cromwell; automated data processing and analysis workflows on the cloud (Alibaba Cloud).
  • Developed seperated WDL modules for each step of the pipeline in a high flexible framework, testified and validated the consistency of the pipeline outputs.
  • Reduced the pipeline runtime by 50% and cost by 50%.
Slides | Pipeline diagram | Example ROC/metrics

GrandOmics Biosciences · 2019–2021

R&D | Middle bioinformatics engineer

Rare disease diagnosis

2019–2021

  • TGS
  • DMD
  • SNV/InDel
  • SV
  • Led development of China’s first targeted capture panel for third-generation sequencing for Duchenne muscular dystrophy (DMD).
  • Achieved improved sensitivity and accuracy for SV, SNV, and InDel detection compared to gold-standard approaches.
  • Realized workflow automation, conducted 4 studies, and published 2 papers.
Slides | Pipeline diagram | Performance comparison plots

Pathogen surveillance and diagnosis

2020-2021

  • COVID-19
  • Pathogen
  • Galaxy
  • Epidemiology
  • Built a Galaxy-based pathogen surveillance system during COVID-19 for mutation tracking, lineage analysis, and visualization
  • Designed targeted amplification kits covering 30 respiratory pathogens.
  • Implemented end-to-end pipelines for identification, automated reporting, and interactive dashboards.
  • Delivered analysis tools accessible to wet-lab and clinical users.
Slides | Dashboard demo | Workflow diagram

Sequencing technology benchmarking

2019-2020

  • Nanopore
  • PacBio
  • Illumina
  • Galaxy
  • Conducted systematic benchmarking of basecalling and variant accuracy across sequencing platforms
  • Compared Nanopore R9 vs. R10 chemistry performance
  • Evaluated Nanopore vs. PacBio vs. Illumina for SNV, InDel, and structural variant detection
Slides | Accuracy plots | Benchmark report

Geneis Beijing · 2017–2019

R&D | Bioinformatics engineer

Oncology Assay & Biomarker Panel Development

2018–2019

  • Targeted sequencing
  • CNV
  • MSI
  • Clinical diagnostics
  • Developed targeted amplification panel for lung cancer biomarkers; established CNV baseline thresholds using MAD-based normalization.
  • Implemented MSI profiling and visualization for genomic instability assessment
  • Delivered reproducible analysis workflows for clinical reporting.
Slides | Panel design | QC plots

Multi-omics Analysis in Developmental Biology

2017–2018

  • RNA-seq
  • Methylation
  • Pathway
  • Performed differential expression and methylation analysis of mouse oocytes (in vitro vs. in vivo; GV vs. MII); identified key transcription factors and maturation-associated pathways
  • Integrated transcriptomic and epigenomic signals to characterize developmental regulation.
  • Generated interpretable visualizations and biological summaries for collaborators.
Slides | Heatmaps | Pathway analysis

Clinical Cancer Genomics & Survival Analysis

2017–2018

  • Targeted sequencing
  • SNV/InDel
  • MSI
  • TMB
  • Conducted retrospective gastric cancer genomics analysis across SNV, InDel, CNV, MSI, and TMB.
  • Evaluated clinical correlations and survival outcomes using Kaplan–Meier analysis.
  • Supported biomarker interpretation for translational research studies.
Slides | KM curves | Cohort report