The ELIXIR Core Data Resources: fundamental infrastructure for the life sciences Page 1
Databases and ontologies The ELIXIR Core Data Resources: fundamental infrastructure for …

The increase in the number of both patients and healthcare practitioners who grew up using
the Internet and computers (so-called “digital natives”) is likely to impact the practice of …

During the last few years, next‐generation sequencing (NGS) technologies have
accelerated the detection of genetic variants resulting in the rapid discovery of new disease …

Background Although rare diseases have become a major public health issue, there is a
paucity of population-based data on rare diseases. The aim of this epidemiological study …

Phenotypes have gained increased notoriety in the clinical and biological domain owing to
their application in numerous areas such as the discovery of disease genes and drug …

Purpose Exome sequencing and diagnosis is beginning to spread across the medical
establishment. The most time-consuming part of genome-based diagnosis is the manual …

Objective To describe birth prevalence of rare craniofacial anomalies and associations with
antenatal and perinatal factors. Study design All live and stillbirths in Western Australia …

Background BaMaRa allows the secure collection and deidentified centralization of medical
data from all patients followed-up in a rare disease expert network in France, based on a …

Phenotype analyses, eg investigating metabolic processes, tissue formation, or organism
behavior, are an important element of most biological and medical research activities …

Abstract The Ataxia Global Initiative (AGI) is a worldwide multi-stakeholder research platform
to systematically enhance trial-readiness in degenerative ataxias. The next-generation …