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
ACMG Annual Clinical Genetics Meeting, Baltimore, MD
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
Haplotype-resolved variant calling in paralogous "dark" regions with Illumina Constellation.
AGBT Advances in Genome Biology and Technology Meeting, Orlando, Florida
American Society of Human Genetics (ASHG), Boston, MA
American Society of Human Genetics (ASHG), Boston, MA
Contact
Please reach out to me by email: hanshunhua0829 [at] gmail [.] com