By Conjoint Associate Professor Mark Pinese

Preprints

Khatri D; Halman A; Kausman J; Mathew J; Bannister E; Stenta T; Moore C; Williams E; Dyas R; Stolper J; Moore C; Pinese M; Kotecha RS; Gyngell C; Lunke S; Christodoulou J; Gwee A; Conyers R; Metz D, 2025, Protocol for Bayesian combined multi-genotype and concentration informed tacrolimus dosing in paediatric solid organ transplantation (BRUNO-PIC), http://dx.doi.org/10.1101/2025.05.06.25327120

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

Warren NM; Pinese M, AEon: A global genetic ancestry estimation tool, http://dx.doi.org/10.1101/2024.06.18.599246

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

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, ClinSV: Clinical grade structural and copy number variant detection from whole genome sequencing data, http://dx.doi.org/10.1101/2020.06.30.20143453

Sullivan AJ; Khuong-Quang D-A; Villani A; Wong-Erasmus M; Trinder S; Lau LMS; Barahona P; Altekoester A-K; Rumford M; Dias K; Mayoh C; Fuentes-Bolanos NA; Courtney EK; El-Kamand S; Cui L; Lin A; Davidson S; Yuki KE; Sanders N; Staunton J; Jessop S; Sriharan S; Alvaro F; Anazodo A; Bhatia K; Campbell M; Foresto S; Gottardo NG; Kirby M; Khaw SL; Manoharan N; McCowage G; Moore AS; Nicholls W; O’Connor M; Padhye B; Ryan AL; Super L; Wood PJ; Davies J; D’Arcy C; Gifford AJ; Rodriguez M; Tucker KM; Pinese M; Ekert PG; Haber M; Tyrrell V; Trahair TN; Marshall GM; Shlien A; Cowley MJ; Ziegler DS, High clinical utility of comprehensive multi-omic molecular profiling of rare and hard-to-diagnose pediatric tumors, http://dx.doi.org/10.21203/rs.3.rs-10108527/v1

Sullivan AJ; Khuong-Quang D-A; Villani A; Wong-Erasmus M; Trinder S; Lau LMS; Barahona P; Altekoester A-K; Rumford M; Dias K; Mayoh C; Fuentes-Bolanos NA; Courtney EK; El-Kamand S; Cui L; Lin A; Davidson S; Yuki KE; Sanders N; Staunton J; Jessop S; Sriharan S; Alvaro F; Anazodo A; Bhatia K; Campbell M; Foresto S; Gottardo NG; Kirby M; Khaw SL; Manoharan N; McCowage G; Moore AS; Nicholls W; O’Connor M; Padhye B; Ryan AL; Super L; Wood PJ; Davies J; D’Arcy C; Gifford AJ; Rodriguez M; Tucker KM; Pinese M; Ekert PG; Haber M; Tyrrell V; Trahair TN; Marshall GM; Shlien A; Cowley MJ; Ziegler DS, High clinical utility of comprehensive multi-omic molecular profiling of rare and hard-to-diagnose pediatric tumors, http://dx.doi.org/10.64898/2026.07.25.26358936

Fuentes-Bolanos NA; Courtney E; Mayoh C; Warby M; Lau LMS; 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 TN; Mateos M; Hansford JR; Dholaria H; Josephi-Taylor S; Moore AS; Nicholls W; Gottardo NG; Downie P; Khaw S-L; Tapp H; McCowage G; Dalla-Pozza L; Alvaro F; Wood PJ; Tyrrell V; Haber M; Cowley MJ; Ekert PG; Marshall GM; Kirk J; Tucker K; Pinese M; Ziegler DS, 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

Puttick C; Kumar KR; Davis RL; Pinese M; Thomas DM; Dinger ME; Sue CM; Cowley MJ, mity: A highly sensitive mitochondrial variant analysis pipeline for whole genome sequencing data, http://dx.doi.org/10.1101/852210

Barlow-Stewart K; Barlow-Stewart K; Courtney E; Cowley M; Ebzery C; Bolanos NF; Gifford A; Harden H; Josephi-Taylor S; Kotecha R; Mateos M; 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 D; Johnston C, Policy and process for returning raw genomic data to parents and young adult participants in a pediatric cancer precision medicine trial., http://dx.doi.org/10.21203/rs.3.rs-4356870/v1

Lacaze P; Pinese M; Kaplan W; Stone A; Brion M-J; Woods RL; McNamara M; McNeil JJ; Dinger ME; Thomas DM, 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

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