By Dr 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

Warren NM; Pinese M, 2024, AEon: A global genetic ancestry estimation tool, http://dx.doi.org/10.1101/2024.06.18.599246

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

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