Shunhua Han

Shunhua Han

Sr Staff Bioinformatics Scientist at Illumina

I am a computational biologist with a broad background in genomics, algorithm development, and clinical applications. My work focuses on solving hard variant-calling problems in medically relevant but technically challenging genomic regions—repetitive sequences, gene duplications, and structurally complex loci—using long-read and short-read whole-genome sequencing data.

At Illumina I have led the development of methods for alpha-thalassemia (HBA1/2) copy number genotyping, Lynch syndrome (PMS2) variant detection, and haplotype-resolved variant calling in medically relevant genes using TruPath Genome. I hold three patents on copy-number variant genotyping and region-ambiguous variant detection methods.

Before joining industry I completed my Ph.D. in Bioinformatics at the University of Georgia, where I built computational tools for transposable element analysis in long-read sequencing data (TELR) and studied TE dynamics in Drosophila cell culture.

Recent News

2026
Poster

Haplotype-resolved variant detection in medically relevant and paralogous genes using Multi-Region Joint Detection with Illumina TruPath Genome.

Biennial Meeting of the International Society for Gastrointestinal Hereditary Tumours (InSiGHT), Dusit Thani Laguna, Singapore

2026
Poster

Haplotype-resolved variant calling in paralogous "dark" regions with Illumina Constellation.

AGBT Advances in Genome Biology and Technology Meeting, Orlando, Florida

Contact

Please reach out to me by email: hanshunhua0829 [at] gmail [.] com