Results 31 to 40 of about 171,678 (355)

Harmonization of Biobank Education for Biobank Technicians: Identification of Learning Objectives

open access: yes, 2022
The quality of biospecimens stored in a biobank depends tremendously on the technical personnel responsible for processing, storage, and release of biospecimens.
Winter, Theresa; Integrated Research Biobank, University Medicine Greifswald, 17475 Greifswald, Germany, theresa.winter@med.uni-greifswald.de   +15 more
core   +1 more source

Exome sequencing and analysis of 454,787 UK Biobank participants

open access: yesNature, 2021
A major goal in human genetics is to use natural variation to understand the phenotypic consequences of altering each protein-coding gene in the genome. Here we used exome sequencing1 to explore protein-altering variants and their consequences in 454,787
J. Backman   +40 more
semanticscholar   +1 more source

Genetics of 35 blood and urine biomarkers in the UK Biobank

open access: yesNature Genetics, 2021
Clinical laboratory tests are a critical component of the continuum of care. We evaluate the genetic basis of 35 blood and urine laboratory measurements in the UK Biobank (n = 363,228 individuals).
Nicholas A. Sinnott-Armstrong   +19 more
semanticscholar   +1 more source

The UK Biobank resource with deep phenotyping and genomic data

open access: yesNature, 2018
The UK Biobank project is a prospective cohort study with deep genetic and phenotypic data collected on approximately 500,000 individuals from across the United Kingdom, aged between 40 and 69 at recruitment.
Clare Bycroft   +18 more
semanticscholar   +1 more source

An expanded set of genome-wide association studies of brain imaging phenotypes in UK Biobank

open access: yesNature Neuroscience, 2021
UK Biobank is a major prospective epidemiological study, including multimodal brain imaging, genetics and ongoing health outcomes. Previously, we published genome-wide associations of 3,144 brain imaging-derived phenotypes, with a discovery sample of 8 ...
Stephen M. Smith   +6 more
semanticscholar   +1 more source

Rare variant contribution to human disease in 281,104 UK Biobank exomes

open access: yesNature, 2021
Genome-wide association studies have uncovered thousands of common variants associated with human disease, but the contribution of rare variants to common disease remains relatively unexplored.
Quanli Wang   +59 more
semanticscholar   +1 more source

amazon-biobank/biobank: Demonstration

open access: yes, 2022
Executable build for demonstration. Contains a testing credential for use by external users. Updates: reduced the number of channels from 2 to
leonardotkimura   +3 more
core   +1 more source

Biobank Łódź® – population based biobank at the University of Łódź, Poland [PDF]

open access: yes, 2019
Biobank Laboratory of the University of Łódź is a unit in the organizational structure of the De- partment of Molecular Biophysics at the Faculty of Biology and Environmental Protection. It was established in 2014 as one of the results of the TESTOPLEK
Dobrowolska, Sylwia   +4 more
core   +1 more source

A generalized linear mixed model association tool for biobank-scale data

open access: yesNature Genetics, 2021
Compared with linear mixed model-based genome-wide association (GWA) methods, generalized linear mixed model (GLMM)-based methods have better statistical properties when applied to binary traits but are computationally much slower.
Longda Jiang   +3 more
semanticscholar   +1 more source

Systematic single-variant and gene-based association testing of thousands of phenotypes in 394,841 UK Biobank exomes

open access: yesCell Genomics, 2022
Summary Genome-wide association studies have successfully discovered thousands of common variants associated with human diseases and traits, but the landscape of rare variations in human disease has not been explored at scale. Exome-sequencing studies of
K. Karczewski   +50 more
semanticscholar   +1 more source

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