Leveraging European infrastructures to access 1 million human genomes by 2022

G Saunders, M Baudis, R Becker, S Beltran… - Nature Reviews …, 2019 - nature.com
Human genomics is undergoing a step change from being a predominantly research-driven
activity to one driven through health care as many countries in Europe now have nascent …

GA4GH: International policies and standards for data sharing across genomic research and healthcare

HL Rehm, AJH Page, L Smith, JB Adams, G Alterovitz… - Cell genomics, 2021 - cell.com
Summary The Global Alliance for Genomics and Health (GA4GH) aims to accelerate
biomedical advances by enabling the responsible sharing of clinical and genomic data …

The European genome-phenome archive in 2021

MA Freeberg, LA Fromont, T D'Altri… - Nucleic Acids …, 2022 - academic.oup.com
Abstract The European Genome-phenome Archive (EGA-https://ega-archive. org/) is a
resource for long term secure archiving of all types of potentially identifiable genetic …

DisProt: intrinsic protein disorder annotation in 2020

A Hatos, B Hajdu-Soltész, AM Monzon… - Nucleic acids …, 2020 - academic.oup.com
Abstract The Database of Protein Disorder (DisProt, URL: https://disprot. org) provides
manually curated annotations of intrinsically disordered proteins from the literature. Here we …

How to design AI-driven clinical trials in nuclear medicine

G Delso, D Cirillo, JD Kaggie, A Valencia… - Seminars in nuclear …, 2021 - Elsevier
Artificial intelligence (AI) is an overarching term for a multitude of technologies which are
currently being discussed and introduced in several areas of medicine and in medical …

From arrayexpress to biostudies

U Sarkans, A Füllgrabe, A Ali, A Athar… - Nucleic acids …, 2021 - academic.oup.com
Abstract ArrayExpress (https://www. ebi. ac. uk/arrayexpress) is an archive of functional
genomics data at EMBL-EBI, established in 2002, initially as an archive for publication …

Linking scientific instruments and computation: Patterns, technologies, and experiences

R Vescovi, R Chard, ND Saint, B Blaiszik, J Pruyne… - Patterns, 2022 - cell.com
Powerful detectors at modern experimental facilities routinely collect data at multiple GB/s.
Online analysis methods are needed to enable the collection of only interesting subsets of …

The “A” of FAIR–as open as possible, as closed as necessary

A Landi, M Thompson, V Giannuzzi, F Bonifazi… - Data …, 2020 - direct.mit.edu
In order to provide responsible access to health data by reconciling benefits of data sharing
with privacy rights and ethical and regulatory requirements, Findable, Accessible …

GA4GH Passport standard for digital identity and access permissions

C Voisin, M Linden, SOM Dyke, SR Bowers, P Alper… - Cell Genomics, 2021 - cell.com
Summary The Global Alliance for Genomics and Health (GA4GH) supports international
standards that enable a federated data sharing model for the research community while …

The bio.tools registry of software tools and data resources for the life sciences

J Ison, H Ienasescu, P Chmura, E Rydza, H Ménager… - Genome biology, 2019 - Springer
Bioinformaticians and biologists rely increasingly upon workflows for the flexible utilization of
the many life science tools that are needed to optimally convert data into knowledge. We …