The ABACBS National Seminar Series will be back Monday April 13th, 12pm-1pm AEST, with speakers Dr. Clare Puttick and Dr Wytamma Wirth. The seminar series aims to highlight the work of bioinformaticians across the spectrum of career stages, located in both urban and regional universities. Please register for the event through this link: https://uqz.zoom.us/meeting/register/eImAvugKQlutmaC-LSkUfw. More details below.
Speaker: Dr. Clare Puttick
- Title:Resolving allele-specific HLA dysregulation in lung cancer
- Abstract: Disruption of the class I human leukocyte antigen (HLA) molecules has important implications for immune evasion and tumor evolution. We developed major histocompatibility complex loss of heterozygosity (LOH), allele-specific mutation and measurement of expression and repression (MHC Hammer). We identified extensive variability in HLA allelic expression and pervasive HLA alternative splicing in normal lung and breast tissue. In lung TRACERx and lung and breast TCGA cohorts, 61% of lung adenocarcinoma (LUAD), 76% of lung squamous cell carcinoma (LUSC) and 35% of estrogen receptor-positive (ER+) cancers harbored class I HLA transcriptional repression, while HLA tumor-enriched alternative splicing occurred in 31%, 11% and 15% of LUAD, LUSC and ER+ cancers. Consistent with the importance of HLA dysfunction in tumor evolution, in LUADs, HLA LOH was associated with metastasis and LUAD primary tumor regions seeding a metastasis had a lower effective neoantigen burden than non-seeding regions. These data highlight the extent and importance of HLA transcriptomic disruption, including repression and alternative splicing in cancer evolution.
- Bio: Dr Clare Puttick established her laboratory at the Garvan Institute of Medical Research in February 2026, where her research sits at the intersection of computational biology, cancer immunology, and genomics. Dr Puttick’s research focuses on understanding how tumours evade immune detection, with a particular emphasis on the HLA genes. These genes play a central role in both the adaptive and innate immune systems, regulating antigen presentation as well as antigen-independent activating and inhibitory signalling. The HLA genes are frequently disrupted across many cancer types, including lung cancer, at both the genomic and epigenetic levels. However, their extreme polymorphism makes them computationally challenging to study, requiring the development of specialised analytical approaches.
Speaker:Dr Wytamma Wirth
- Title: Snippy-NG - unified microbial variant calling and phylogenomics for heterogenous sequence data
- Abstract: Snippy-NG is a next-generation reimplementation of Snippy designed to keep the familiar SNP-calling workflow while making the system more modular, extensible, and suitable for modern datasets. It supports short reads, long reads, and assemblies within a shared architecture built from reusable stages and pipelines. Here I will detail the development progress of Snippy-NG, new features, and initial benchmarks.
- Bio: Dr Wytamma Wirth is a technical biologist in the Centre for Pathogen Genomics at the Peter Doherty Institute. His work focuses on genomic epidemiology, phylodynamics, and bioinformatics. Wytamma’s role spans basic research, tool development, analysis of large scale real world datasets, and contributions to national genomics infrastructure. In his current Essential Open Source Software for Science funded position, Wytamma works with Associate Professor Torsten Seemann as a core developer of the microbial variant caller Snippy-NG, helping build the next generation of microbial bioinformatics tools.
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