TY - JOUR T1 - PGP-UK: a research and citizen science hybrid project in support of personalized medicine JF - bioRxiv DO - 10.1101/288829 SP - 288829 AU - PGP-UK Consortium AU - Stephan Beck AU - Alison M Berner AU - Graham Bignell AU - Maggie Bond AU - Martin J Callanan AU - Olga Chervova AU - Lucia Conde AU - Manuel Corpas AU - Simone Ecker AU - Hannah R Elliott AU - Silvana A Fioramonti AU - Adrienne M Flanagan AU - Ricarda Gaentzsch AU - David Graham AU - Deirdre Gribbin AU - José Afonso Guerra-Assunção AU - Rifat Hamoudi AU - Vincent Harding AU - Paul L Harrison AU - Javier Herrero AU - Jana Hofmann AU - Erica Jones AU - Saif Khan AU - Jane Kaye AU - Polly Kerr AU - Emanuele Libertini AU - Laura McCormack AU - Ismail Moghul AU - Nikolas Pontikos AU - Sharmini Rajanayagam AU - Kirti Rana AU - Momodou Semega-Janneh AU - Colin P Smith AU - Louise Strom AU - Sevgi Umur AU - Amy P Webster AU - Karen Wint AU - John N Wood Y1 - 2018/01/01 UR - http://biorxiv.org/content/early/2018/03/27/288829.abstract N2 - Molecular analyses such as whole-genome sequencing have become routine and are expected to be transformational for future healthcare and lifestyle decisions. Population-wide implementation of such analyses is, however, not without challenges, and multiple studies are ongoing to identify what these are and explore how they can be addressed. Defined as a research project, the Personal Genome Project UK (PGP-UK) is part of the global PGP network and focuses on open data sharing and citizen science to advance and accelerate personalized genomics and medicine. Here we report our findings on using an open consent recruitment protocol, active participant involvement, open access release of personal genome, methylome and transcriptome data and associated analyses, including 47 new variants predicted to affect gene function and innovative reports based on the analysis of genetic and epigenetic variants. For this pilot study, we recruited ten participants willing to actively engage as citizen scientists with the project. In addition, we introduce Genome Donation as a novel mechanism for openly sharing previously restricted data and discuss the first three donations received. Lastly, we present GenoME, a free, open-source educational app suitable for the lay public to allow exploration of personal genomes. Our findings demonstrate that citizen science-based approaches like PGP-UK have an important role to play in the public awareness, acceptance and implementation of genomics and personalized medicine. ER -