About

Shunhua Han, Ph.D.

I’m a Sr. Staff Bioinformatics Scientist at Illumina in San Diego, where I develop computational methods to resolve genetic variation in repetitive and structurally complex regions of the genome. My current focus is copy-aware, haplotype-resolved analysis for TruPath Genome and DRAGEN: TruPath Genome is an on-flowcell proximity sequencing chemistry, and I work on the multi-region joint detection algorithms that turn its long-range linkage into per-copy variant calls in segmental duplications. Before that I built targeted callers for the alpha-globin locus and for PMS2, two of the harder targets in carrier screening and hereditary cancer research.

I came to this problem through transposable elements. During my Ph.D. with Casey Bergman at the University of Georgia, I studied how TEs reshape the genomes of Drosophila cell lines, and built the software (TELR, ngs_te_mapper2) to find insertions that standard tools miss. Repetitive DNA has a way of breaking every assumption a pipeline makes, and I found I liked working exactly where things break.

The through-line of my work is simple: a lot of medically important genetic variation sits in places where the genome carries two nearly identical copies of the same sequence, and someone has to figure out which copy a read came from. That puzzle, in different forms, has kept me busy for a decade.

Education

2016 – 2021

Ph.D. in Bioinformatics

University of Georgia

Dissertation: Novel computational strategies for the analysis of transposable elements in Drosophila cell culture genomes (Dissertation PDF). Advisor: Casey Bergman.

2011 – 2015

B.S. in Pharmaceutical Sciences

East China University of Science and Technology, Shanghai

Professional experience

2025 – now

Sr. Staff Bioinformatics Scientist

Illumina

Copy-aware, haplotype-resolved variant analysis for paralogous genes, using multi-region joint detection with TruPath Genome proximity data and standard whole-genome sequencing.

2023 – 2025

Staff Bioinformatics Scientist

Illumina

Improved small-variant calling accuracy in the PMS2/PMS2CL high-homology region for standard whole-genome sequencing, work relevant to Lynch syndrome research.

2022 – 2023

Senior Bioinformatics Scientist

Illumina

Led development of the HBA1/2 copy-number genotyping method, which genotypes common alpha-globin configurations from whole-genome sequencing. Released for research use.

2016 – 2021

Graduate Research Assistant

University of Georgia

Developed TELR (long-read TE detection), ngs_te_mapper2 (cell-line authentication), and machine learning models for P element target site prediction.

Skills

Languages

Python · R · C++ · Bash

Infrastructure

Nextflow · Docker · AWS

Focus

Variant calling in complex and repetitive regions · Long-read sequencing · Copy number analysis · Transposable element biology

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