By Dr Mark Pinese

Preprints

Fuentes-Bolanos N; Courtney E; Mayoh C; Warby M; Lau L; Wong-Erasmus M; Khuong-Quang D-A; Barahona P; Padhye B; El-Kamand S; Nunag S; Ajuyah P; Sherstyuk A; Altekoester A-K; Sullivan A; Poplawski N; Kiraly-Borri C; O’Sullivan S; Marfan H; Alli R; Curnow L; Bhatia K; Anazodo A; Trahair T; Mateos M; Hansford J; Dholaria H; Josephi-Taylor S; Moore A; Nicholls W; Gottardo N; Downie P; Khaw S-L; Tapp H; McCowage G; Dalla-Pozza L; Alvaro F; Wood P; Tyrrell V; Haber M; Cowley M; Ekert P; Marshall G; Kirk J; Tucker K; Pinese M; Ziegler D, 2024, Integrated germline and somatic molecular profiling to detect cancer predisposition has a high clinical impact in poor-prognosis paediatric cancer, http://dx.doi.org/10.1101/2024.08.08.24311493

Minoche AE; Lundie B; Peters GB; Ohnesorg T; Pinese M; Thomas DM; Zankl A; Roscioli T; Schonrock N; Kummerfeld S; Burnett L; Dinger ME; Cowley MJ, 2020, ClinSV: Clinical grade structural and copy number variant detection from whole genome sequencing data, http://dx.doi.org/10.1101/2020.06.30.20143453

Puttick C; Kumar K; Davis R; Pinese M; Thomas D; Dinger M; Sue C; Cowley M, 2019, mity: A highly sensitive mitochondrial variant analysis pipeline for whole genome sequencing data, http://dx.doi.org/10.1101/852210

Pinese M; Lacaze P; Rath E; Stone A; Brion M-J; Ameur A; Nagpal S; Puttick C; Husson S; Degrave D; Navin Cristina T; Silva Kahl V; Statham A; Woods R; McNeil J; Riaz M; Barr M; Nelson M; Reid C; Murray A; Shah R; Wolfe R; Atkins J; Fitzsimmons C; Cairns H; Green M; Carr V; Cowley M; Pickett H; James P; Powell J; Kaplan W; Gibson G; Gyllensten U; Cairns M; McNamara M; Dinger M; Thomas D, 2018, The Medical Genome Reference Bank: Whole genomes and phenotype of 2,570 healthy elderly, http://dx.doi.org/10.1101/473348

Pattnaik S; Vacher C; Lee HC; Kaplan W; Thomas D; Wu J; Pinese M, 2018, Network-aware mutation clustering of cancer, http://dx.doi.org/10.1101/432872

Lacaze P; Pinese M; Kaplan W; Stone A; Brion M-J; Woods RL; McNamara M; McNeil JJ; Dinger ME; Thomas DM, 2018, The Medical Genome Reference Bank: a whole-genome data resource of 4,000 healthy elderly individuals. Rationale and cohort design, http://dx.doi.org/10.1101/274019

Guennewig B; Davies Z; Pinese M; Cooper AA, 2017, blkbox: Integration of multiple machine learning approaches to identify disease biomarkers, http://dx.doi.org/10.1101/123430

Other

Barlow-Stewart K; Courtney E; Cowley M; Ebzery C; Fuentes Bolanos N; Gifford AJ; Harden H; Josephi-Taylor S; Kotecha RS; Mateos MK; Manzur M; Mayoh C; Milnes D; Nielsen J; O’Connor M; Padhye B; Pitman C; Pitman E; Pinese M; Speechly C; Sullivan A; Trahair T; Tucker K; Tyrrell V; Warby M; Wood A; Ziegler DS; Johnston C, 2025, Correction to: Returning raw genomic data to research participants in a pediatric cancer precision medicine trial (npj Genomic Medicine, (2025), 10, 1, (12), 10.1038/s41525-025-00470-y), http://dx.doi.org/10.1038/s41525-025-00486-4

Tyrrell V; Mayoh C; Ekert P; Cowley M; Ziegler D; Wong M; Barahona P; Pinese M; Haber M; Salomon R; Courtney E; Lock R; Fuentes-Bolanos N; Marshall G; Warby M; Trahair T; Khuong Quang DA; Wakefield C; Tucker K; Barlow-Stewart K; Padhye B; Lau L, 2025, Zero Childhood Cancer: a national approach to improving outcomes of Australian children with cancer through multiomic precision medicine, Elsevier BV, http://dx.doi.org/10.1016/j.pathol.2024.12.099

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