scholarly journals Eyes wide open: the personal genome project, citizen science and veracity in informed consent

2009 ◽  
Vol 6 (6) ◽  
pp. 691-699 ◽  
Author(s):  
Misha Angrist
Keyword(s):  
Informed Consent ◽  
Citizen Science ◽  
Genome Project ◽  
Personal Genome ◽  
Personal Genome Project ◽  
Project Citizen

scholarly journals The Personal Genome Project-UK: an open access resource of human multi-omics data

2019 ◽  
Author(s):  
Olga Chervova ◽  
Lucia Conde ◽  
José Afonso Guerra-Assunção ◽  
Ismail Moghul ◽  
Amy P. Webster ◽  
...  
Keyword(s):  
Open Access ◽  
Genome Project ◽  
Reference Panel ◽  
Integrated Analysis ◽  
Personal Genome ◽  
Omics Data ◽  
Personal Genome Project ◽  
Medical Genomics ◽  
Open Access Resource ◽  
Access Resource

AbstractIntegrative analysis of multi-omics data is a powerful approach for gaining functional insights into biological and medical processes. Conducting these multifaceted analyses on human samples is often complicated by the fact that the raw sequencing output is rarely available under open access. The Personal Genome Project UK (PGP-UK) is one of few resources that recruits its participants under open consent and makes the resulting multi-omics data freely and openly available. As part of this resource, we describe the PGP-UK multi-omics reference panel consisting of ten genomic, methylomic and transcriptomic data. Specifically, we outline the data processing, quality control and validation procedures which were implemented to ensure data integrity and exclude sample mix-ups. In addition, we provide a REST API to facilitate the download of the entire PGP-UK dataset. The data are also available from two cloud-based environments, providing platforms for free integrated analysis. In conclusion, the genotype-validated PGP-UK multi-omics human reference panel described here provides a valuable new open access resource for integrated analyses in support of personal and medical genomics.

scholarly journals Harvard Personal Genome Project: lessons from participatory public research

10.1186/gm527 ◽  
2014 ◽  
Vol 6 (2) ◽  
pp. 10 ◽  
Author(s):  
Madeleine P Ball ◽  
Jason R Bobe ◽  
Michael F Chou ◽  
Tom Clegg ◽  
Preston W Estep ◽  
...  
Keyword(s):  
Genome Project ◽  
Personal Genome ◽  
Public Research ◽  
Personal Genome Project

scholarly journals The Personal Genome Project-UK, an open access resource of human multi-omics data

2019 ◽  
Vol 6 (1) ◽  
Author(s):  
Olga Chervova ◽  
Lucia Conde ◽  
José Afonso Guerra-Assunção ◽  
Ismail Moghul ◽  
Amy P. Webster ◽  
...  
Keyword(s):  
Open Access ◽  
Genome Project ◽  
Reference Panel ◽  
Integrated Analysis ◽  
Personal Genome ◽  
Omics Data ◽  
Personal Genome Project ◽  
Medical Genomics ◽  
Open Access Resource ◽  
Access Resource

Abstract Integrative analysis of multi-omics data is a powerful approach for gaining functional insights into biological and medical processes. Conducting these multifaceted analyses on human samples is often complicated by the fact that the raw sequencing output is rarely available under open access. The Personal Genome Project UK (PGP-UK) is one of few resources that recruits its participants under open consent and makes the resulting multi-omics data freely and openly available. As part of this resource, we describe the PGP-UK multi-omics reference panel consisting of ten genomic, methylomic and transcriptomic data. Specifically, we outline the data processing, quality control and validation procedures which were implemented to ensure data integrity and exclude sample mix-ups. In addition, we provide a REST API to facilitate the download of the entire PGP-UK dataset. The data are also available from two cloud-based environments, providing platforms for free integrated analysis. In conclusion, the genotype-validated PGP-UK multi-omics human reference panel described here provides a valuable new open access resource for integrated analyses in support of personal and medical genomics.

scholarly journals The Sri Lankan Personal Genome Project: an overview

2011 ◽  
Vol 2 (1) ◽  
pp. 4 ◽  
Author(s):  
Vajira H.W. Dissanayake ◽  
Pubudu S. Samarakoon ◽  
Vinod Scaria ◽  
Ashok Patowary ◽  
Sridar Sivasubbu ◽  
...  
Keyword(s):  
Genome Project ◽  
Personal Genome ◽  
Sri Lankan ◽  
Personal Genome Project

scholarly journals PGP-UK: a research and citizen science hybrid project in support of personalized medicine

2018 ◽  
Author(s):  
◽  
Stephan Beck ◽  
Alison M Berner ◽  
Graham Bignell ◽  
Maggie Bond ◽  
...  
Keyword(s):  
Personalized Medicine ◽  
Citizen Science ◽  
Public Awareness ◽  
Open Data ◽  
Genome Project ◽  
Personal Genome ◽  
The Public ◽  
Open Consent ◽  
Free Open Source ◽  
And Personalized Medicine

AbstractMolecular 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.

scholarly journals Matching phenotypes to whole genomes: Lessons learned from four iterations of the personal genome project community challenges

2017 ◽  
Vol 38 (9) ◽  
pp. 1266-1276 ◽  
Author(s):  
Binghuang Cai ◽  
Biao Li ◽  
Nikki Kiga ◽  
Janita Thusberg ◽  
Timothy Bergquist ◽  
...  
Keyword(s):  
Genome Project ◽  
Lessons Learned ◽  
Personal Genome ◽  
Personal Genome Project ◽  
Whole Genomes

scholarly journals GenomeChronicler: The Personal Genome Project UK Genomic Report Generator Pipeline

2020 ◽  
Vol 11 ◽  
Author(s):  
José Afonso Guerra-Assunção ◽  
Lucia Conde ◽  
Ismail Moghul ◽  
Amy P. Webster ◽  
Simone Ecker ◽  
...  
Keyword(s):  
Genome Project ◽  
Personal Genome ◽  
Personal Genome Project

scholarly journals Personal genome project

2012 ◽  
Vol 13 (9) ◽  
pp. 599-599 ◽  
Author(s):  
Bryony Jones
Keyword(s):  
Genome Project ◽  
Personal Genome ◽  
Personal Genome Project
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