Author

Sebastian Lunke

The University of MelbourneORCID 0000-0002-7168-0723Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 3 Bioinformatics· 1

Signature Assays, Organisms & Methods

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Research Focus:variant calling· 4 Organism:human· 3 Approach:statistical model· 3 Assay:whole-genome sequencing· 3 Research Focus:benchmarking· 2 Research Focus:differential expression· 2 Research Focus:variant effect prediction· 2 Assay:whole-exome sequencing· 2

Frequent Co-Authors

Simon SadediniD· 3 shared Zornitza StarkiD· 3 shared Paul J. LockhartiD· 2 shared Alex Bloemendal· 1 shared Alexey ZabelkiniD· 1 shared Alicia OshlackiD· 1 shared Amali C. MallawaarachchiiD· 1 shared Andrew John MallettiD· 1 shared

Activity by Year

2015-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 25 mutual co-author links

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3 shared papersGenetic & Genomic Medicine

Simon SadedinORCID

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Author profile →

4 papers

Recent·Most cited

Accurate repeat expansion genotyping from whole-genome and real-time targeted nanopore sequencing with Mahi-mahi

Sophia B Gibson, Rebecca N Palmer, Sebastian Hollizeck, Wouter Koole, Heather M. Jeffery, Mirjan Albring, Jillian G. Buchan, R. Keira Cheetham, Martin Elferink, Joy Goffena, Elizabeth J. Hamlin, Rumo Jansen, Paul J. Lockhart, Dr. Rachel Martin, Angela L Miller, , Philipp Rescheneder

Mahi-mahi accurately genotypes repeat expansions from nanopore sequencing data, matching orthogonal methods and identifying pathogenic alleles.

medRxiv · Oct 20, 2026 · PreprintGenetic & Genomic Medicine

Scalable automated reanalysis of genomic data in research and clinical rare disease cohorts

Matthew J. Welland, K. D. Ahlquist, Paul De Fazio, Christina Anne Austin-Tse, Lynn S. Pais, Laura Wedd, Samantha J. Bryen, Rocío Rius, Michael Franklin, Caitlin Morrison, Giles Hall, Laura Doyle Gauthier, Alex Bloemendal, David I. Francis, Andrew John Mallett, , Zornitza Stark

The paper develops an automated tool for reanalyzing genomic data in rare disease cohorts, showing improved diagnostic yields through iterative reanalysis.

medRxiv · May 19, 2025 · PreprintGenetic & Genomic Medicine

Benchmarking and quality control for nanopore sequencing and feasibility of rapid genomics in New Zealand: validation phase at a single quaternary hospital

Denis M. Nyaga, Peter Tsai, Clare Gebbie, Hui Hui Phua, Patrick Yap, Polona Le Quesne Stabej, Sophie L. Farrow, Jing Rong, Gergely Toldi, Eric B. Thorstensen, Zornitza Stark, Sebastian Lunke, Kimberley Gamet, Jodi Van Dyk, Mark Greenslade, Justin Martin O'Sullivan

The paper benchmarks nanopore sequencing performance and validates a rapid genomics pipeline for clinical use in New Zealand.

medRxiv · Jun 13, 2024 · PreprintGenetic & Genomic Medicine

Cpipe: a shared variant detection pipeline designed for diagnostic settings

Simon Sadedin, Harriet Dashnow, Paul James, Melanie Bahlo, Denis C Bauer, Andrew Lonie, Sebastian Lunke, Ivan Macciocca, Jason Ross, Kirby R Siemering, Zornitza Stark, Sue White, Graham Taylor, Clara Gaff, Alicia Oshlack, , Melbourne Genomics Health Alliance

Cpipe is a variant detection pipeline designed for clinical genomics, offering fast, reproducible, and customizable analysis for diagnostic settings.

Genome Medicine · Jul 10, 2015Peer-reviewedBioinformatics