Results 1 to 10 of about 1,222,922 (326)

Genetic variants associated with sepsis.

PLoS 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, Elizabeth S Jewell, Nicholas Douville, Stephanie Moser, Michael D Maile, Melissa E Bauer   +5 more
doaj   +4 more sources

Understanding genetic variants in context

eLife
Over the last three decades, human genetics has gone from dissecting high-penetrance Mendelian diseases to discovering the vast and complex genetic etiology of common human diseases.
Nasa Sinnott-Armstrong, Stanley Fields, Frederick Roth, Lea M Starita, Cole Trapnell, Judit Villen, Douglas M Fowler, Christine Queitsch   +7 more
doaj   +3 more sources

Unraveling the impact of genetic variants. [PDF]

Elife
Experiments in mice reveal how three rare mutations in a gene called TRIO can lead to different neurodevelopmental outcomes.
Herring B.
europepmc   +3 more sources

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

Genes 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, Zifan Liu, Junjie Shao, Min Jiang, Xuechun Lu, Lejian Lin, Lin Wang, Qiang Xu, Haomin Zhang, Xin Li, Jingjing Zhou, Yundai Chen, Ran Zhang   +12 more
doaj   +1 more source

Genetic investigation of Nordic patients with complement-mediated kidney diseases

Frontiers 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, Sigridur Sunna Aradottir, Ann-Charlotte Kristoffersson, Naila Svitacheva, Diana Karpman   +4 more
doaj   +1 more source

A Boolean algebra for genetic variants

Bioinformatics, 2023
AbstractMotivationBeyond identifying genetic variants, we introduce a set of Boolean relations, which allows for a comprehensive classification of the relations of every pair of variants by taking all minimal alignments into account. We present an efficient algorithm to compute these relations, including a novel way of efficiently computing all minimal
Jonathan K Vis, Mark A Santcroos, Walter A Kosters, Jeroen F J Laros   +3 more
openaire   +6 more sources

Interpretation of genetic variants [PDF]

Thorax, 2013
Sequencing of the human genome and introduction of clinical next-generation sequencing enable discovery of all DNA variants carried by an individual. Variants may be solely responsible for disease, may contribute to disease, or may have no influence on the development of disease.
Garry R. Cutting, Patrick R. Sosnay
openaire   +2 more sources

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

Frontiers 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, Abhinav Jain, Abhinav Jain, Vinod Scaria, Vinod Scaria, Vinod Scaria   +5 more
doaj   +1 more source

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

BMC 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, Ahad AlGahtani, Turki M. Sobahy   +2 more
doaj   +1 more source

Matching Variants for functional characterization of genetic variants

G3: Genes, Genomes, Genetics, 2023
AbstractRapid and low-cost sequencing, as well as computer analysis, have facilitated the diagnosis of many genetic diseases, resulting in a substantial rise in the number of disease-associated genes. However, genetic diagnosis of many disorders remains problematic due to the lack of interpretation for many genetic variants, especially missenses, the ...
Sebiha Cevik, Pei Zhao, Atiyye Zorluer, Mustafa S Pir, Wenyin Bian, Oktay I Kaplan   +5 more
openaire   +2 more sources