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The Data Use Ontology to streamline responsible access to human biomedical datasets

Cell Genomics, 2021
Summary: Human biomedical datasets that are critical for research and clinical studies to benefit human health also often contain sensitive or potentially identifying information of individual participants.
Jonathan Lawson +56 more
doaj +1 more source

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

Cell Genomics, 2021
Summary: The Global Alliance for Genomics and Health (GA4GH) aims to accelerate biomedical advances by enabling the responsible sharing of clinical and genomic data through both harmonized data aggregation and federated approaches. The decreasing cost of
Heidi L. Rehm +201 more
doaj +1 more source

Genetic risk factors in Finnish patients with Fuchs endothelial corneal dystrophy

Acta Ophthalmologica, EarlyView.
Abstract Purpose To study the genetic risk factors of Fuchs endothelial corneal dystrophy (FECD) in the Finnish population using hospital‐based and large biobank cohorts. Methods We genotyped a cohort of 107 Finnish patients with FECD for the primary associated genetic risk factor, the TCF4 (CTG)>50 expansion, and studied their clinical phenotype.
Inka‐Tuulevi Vähämäki +10 more
wiley +1 more source

ADOPT BBMRI-ERIC Deliverable D1.1 - Set up of all bodies like the International Advisory Board

, 2017
Deliverable D1.1 within the H2020 project "ADOPT BBMRI-ERIC". The organizational structure of ADOPT BBMRI-ERIC will follow the governance structure of BBMRI-ERIC with few adjustments.
Törnwall, Outi
core +1 more source

The European Research Infrastructures of the ESFRI Roadmap in Biological and Medical Sciences: status and perspectives

Annali dell'Istituto Superiore di Sanità, 2014
INTRODUCTION. Since 2002, the European Strategy Forum on Research Infrastructures identified the needs for Research Infrastructures (RIs) in Europe in priority fields of scientific research and drafted a strategic document, the ESFRI Roadmap, defining ...
Alessia Calzolari +7 more
doaj +1 more source

Expertise is the new infrastructure

Journal of Microscopy, Volume 302, Issue 3, Page 244-255, June 2026.
Abstract Today's life science endeavours are complex and interconnected, and they face diverse challenges, such as budgetary insecurity and the reproducibility crisis. As a result, core facilities have become vital in research institutes, transitioning from mere conveniences to essential components that ensure instrument access.
Pablo Hernandez‐Varas +6 more
wiley +1 more source

The Impact of Complement Factor H‐Related Protein Gene Deletions on Kidney Transplantation

Scandinavian Journal of Immunology, Volume 102, Issue 6, December 2025.
In this study, we found that rs7542235 allele G tags a deletion of the CFHR1 gene. We also found that rs6677604 allele A tags a deletion of the whole CFHR3–1 locus. The plasma proteomics studies show that both variants are associated with an altered expression of FH/FHR proteins thus revealing a novel level of intricate regulation of the complement ...
Salla Markkinen +6 more
wiley +1 more source

Genome Database of the Latvian Population (LGDB): Design, Goals, and Primary Results

Journal of Epidemiology, 2018
Background: The Genome Database of the Latvian Population (LGDB) is a national biobank that collects, maintains, and processes health information, data, and biospecimens collected from representatives of the Latvian population. These specimens serve as a
Vita Rovite +5 more
doaj +1 more source

The human melanoma proteome atlas—Defining the molecular pathology

Clinical and Translational Medicine, 2021
The MM500 study is an initiative to map the protein levels in malignant melanoma tumor samples, focused on in‐depth histopathology coupled to proteome characterization.
Lazaro Hiram Betancourt +56 more
doaj +1 more source

Long‐term cardiovascular risk in women with hypertensive disorders of pregnancy: Insights from polygenic risk scores

Acta Obstetricia et Gynecologica Scandinavica, Volume 104, Issue 10, Page 1907-1917, October 2025.
FinnGen data of 213 942 women was utilized in order to investigate the risk of cardiovascular disease in women with and without hypertensive disorders of pregnancy and with diverse genetic risks for cardiovascular disease and preeclampsia measured with polygenic risk scores.
Anna Kivioja +8 more
wiley +1 more source

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