By Dr Ira William Deveson

Preprints

Mallawaarachchi A; Hort Y; Sullivan P; Wedd L; Fowles L; Stevanonvski I; Deveson I; Simons C; Mallett A; Patel C; Furlong T; Cowley M; Shine J, Short and long-read whole genome sequencing explains most undiagnosed Autosomal Dominant Polycystic Kidney Disease, http://dx.doi.org/10.21203/rs.3.rs-2397081/v1

Gamaarachchi H; Samarakoon H; Jenner S; Ferguson J; Amos T; Hammond J; Saadat H; Smith M; Parameswaran S; Deveson I, SLOW5: a new file format enables massive acceleration of nanopore sequencing data analysis, http://dx.doi.org/10.21203/rs.3.rs-668517/v1

Pellerin D; Méreaux J-L; Boluda S; Danzi MC; Dicaire M-J; Davoine C-S; Genis D; Spurdens G; Ashton C; Hammond JM; Gerhart BJ; Chelban V; Le PU; Safisamghabadi M; Yanick C; Lee H; Nageshwaran SK; Matos-Rodrigues G; Jaunmuktane Z; Petrecca K; Akbarian S; Nussenzweig A; Usdin K; Renaud M; Bonnet C; Ravenscroft G; Saporta MA; Napierala JS; Houlden H; Deveson IW; Napierala M; Brice A; Porcel LM; Seilhean D; Zuchner S; Durr A; Brais B, Somatic instability of the FGF14-SCA27B GAA•TTC repeat reveals a marked expansion bias in the cerebellum, http://dx.doi.org/10.1101/2024.07.01.24309777

Gamaarachchi H; Ferguson JM; Samarakoon H; Liyanage K; Deveson IW, Squigulator: simulation of nanopore sequencing signal data with tunable noise parameters, http://dx.doi.org/10.1101/2023.05.09.539953

Wong B; Ferguson JM; Gamaarachchi H; Deveson IW, Streamlining remote nanopore data access with slow5curl, http://dx.doi.org/10.1101/2023.11.28.569128

Gudkov M; Reis ALM; Kumaheri M; Deveson IW, SVlog: a logic programming framework for understanding structural variation in genomic disease, http://dx.doi.org/10.64898/2026.08.11.744322

Tanudisastro HA; Cuomo ASE; Weisburd B; Welland M; Spenceley E; Franklin M; Xue A; Huang HL; Bowen B; Fan J; Dong OA; Henry A; Allen PC; Wing K; Tang O; Gray M; Reis ALM; Margoliash J; Kurtas NE; Pullin JM; Lee AS; Brand H; Harper M; Bobowik K; Silk M; Miniter A; Marshall J; Bakiris V; Madala BS; Uren C; Bartie C; McCloy RA; Senabouth A; Dashnow H; Fearnley L; Martin-Trujillo A; Dolzhenko E; Qiao Z; Grieve SM; Nguyen T; Ben-David E; Chen L; Farh KK-H; Talkowski M; Alexander SI; Siggs OM; Gruenschloss L; Nicholas HR; Piscionere J; Simons C; Wallace C; Gymrek M; Deveson IW; Hewitt AW; Figtree GA; de Lange KM; Powell JE; MacArthur DG, Tandem repeat variation shapes immune cell type-specific gene expression, http://dx.doi.org/10.1101/2024.11.02.621562

Rudaks LI; Stevanovski I; Yeow D; Reis ALM; Chintalaphani SR; Cheong PL; Gamaarachchi H; Worgan L; Ahmad K; Hayes M; Hannaford A; Kim S; Fung VSC; Halmagyi M; Martin A; Manser D; Tchan M; Ng K; Kennerson ML; Deveson IW; Kumar KR, Targeted long-read sequencing as a single assay improves diagnosis of spastic-ataxia disorders, http://dx.doi.org/10.1101/2024.09.04.24312938

Gamaarachchi H; Stevanovski I; Hammond JM; Reis ALM; Rapadas M; Jayasooriya K; Russell T; Yeow D; Hort Y; Patel C; Mallett AJ; Stackpoole E; Roman L; Silver LW; Hogg CJ; Streeting LM; Bogdanovic O; Noronha RCR; do Nascimento LAS; Cardoso AL; Georges A; Cheng H; Patel HR; Kumar KR; Mallawaarachchi AC; Deveson IW, Targeted sequencing and iterative assembly of near-complete genomes, http://dx.doi.org/10.1101/2025.03.31.646505

Gamaarachchi H; Jenner S; Samarakoon H; Ferguson JM; Deveson IW, The enduring advantages of the SLOW5 file format for raw nanopore sequencing data, http://dx.doi.org/10.1101/2025.06.30.662478

Reis ALM; Rapadas M; Hammond JM; Gamaarachchi H; Stevanovski I; Kumaheri MA; Chintalaphani SR; Dissanayake DSB; Siggs OM; Hewitt AW; Llamas B; Brown A; Baynam G; Mann GJ; Hermes A; Genomics CFI; Patel HR; Deveson IW, The landscape of genomic structural variation in Indigenous Australians, http://dx.doi.org/10.1101/2023.10.17.562810

Whiteley SL; Holleley CE; Wagner S; Blackburn J; Deveson IW; Graves JAM; Georges A, Two transcriptionally distinct pathways drive female development in a reptile with both genetic and temperature dependent sex determination, http://dx.doi.org/10.1101/2021.02.03.429474

Deveson IW; Brunck ME; Blackburn J; Tseng E; Hon T; Clark TA; Clark MB; Crawford J; Dinger ME; Nielsen LK; Mattick JS; Mercer TR, Universal alternative splicing of noncoding exons, http://dx.doi.org/10.1101/136275

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