By Dr Mark Pinese

Preprints

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

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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