Results 1 to 10 of about 4,753,986 (376)

Genetic variants associated with sepsis.

open access: yesPLoS ONE, 2022
BackgroundThe variable presentations and different phenotypes of sepsis suggest that risk of sepsis comes from many genes each having a small effect. The cumulative effect can be used to create individual risk profile.
Milo Engoren   +5 more
doaj   +4 more sources

Pathogenesis of premature coronary artery disease: Focus on risk factors and genetic variants

open access: yesGenes and Diseases, 2022
The development of premature coronary artery disease (PCAD) is dependent on both genetic predisposition and traditional risk factors. Strategies for unraveling the genetic basis of PCAD have evolved with the advent of modern technologies.
Haiming Wang   +12 more
doaj   +1 more source

Genetic investigation of Nordic patients with complement-mediated kidney diseases

open access: yesFrontiers in Immunology, 2023
BackgroundComplement activation in atypical hemolytic uremic syndrome (aHUS), C3 glomerulonephropathy (C3G) and immune complex-mediated membranoproliferative glomerulonephritis (IC-MPGN) may be associated with rare genetic variants. Here we describe gene
Viktor Rydberg   +4 more
doaj   +1 more source

A saturated map of common genetic variants associated with human height

open access: yesNature, 2022
Common single-nucleotide polymorphisms (SNPs) are predicted to collectively explain 40–50% of phenotypic variation in human height, but identifying the specific variants and associated regions requires huge sample sizes1.
L. Yengo   +499 more
semanticscholar   +1 more source

Genetic Variants of SARS-CoV-2-What Do They Mean?

open access: yesJournal of the American Medical Association (JAMA), 2021
Over the course of the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) pandemic, the clinical, scientific, and public health communities have had to respond to new viral genetic variants. Each one has triggered a flurry of media attention, a
A. Lauring, E. Hodcroft
semanticscholar   +1 more source

Genetic Landscape of Rare Autoinflammatory Disease Variants in Qatar and Middle Eastern Populations Through the Integration of Whole-Genome and Exome Datasets

open access: yesFrontiers in Genetics, 2021
Rare monogenic autoinflammatory diseases are a group of recurrent inflammatory genetic disorders caused due to genetic variants in over 37 genes. While a number of these disorders have been identified and reported in Middle Eastern populations, the ...
Parul Sharma   +5 more
doaj   +1 more source

Interaction Testing and Polygenic Risk Scoring to Estimate the Association of Common Genetic Variants With Treatment Resistance in Schizophrenia

open access: yesJAMA psychiatry, 2022
Key Points Question Can common genetic variants be used to differentiate between treatment-resistant schizophrenia (TRS) and other forms of this disorder?
A. Pardiñas   +69 more
semanticscholar   +1 more source

CACSV: a computational web-sever that provides classification for cancer somatic genetic variants from different tissues

open access: yesBMC Bioinformatics, 2023
Background Understanding the role and function of genetic variants is extremely important when analyzing and interpreting a myriad of human disease processes.
Nahla AlKurabi   +2 more
doaj   +1 more source

The Challenge of Genetic Variants of Uncertain Clinical Significance

open access: yesAnnals of Internal Medicine, 2022
Genomic tests expand diagnostic and screening opportunities but also identify genetic variants of uncertain clinical significance (VUSs). Only a minority of VUSs are likely to prove pathogenic when later reassessed, but resolution of the uncertainty is ...
W. Burke   +4 more
semanticscholar   +1 more source

Genetic variants associated with longitudinal changes in brain structure across the lifespan

open access: yesNature Neuroscience, 2021
Human brain structure changes throughout the lifespan. Altered brain growth or rates of decline are implicated in a vast range of psychiatric, developmental and neurodegenerative diseases.
R. Brouwer   +200 more
semanticscholar   +1 more source

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