Results 1 to 10 of about 1,262,664 (328)

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

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

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

In silico identification of variations in microRNAs with a potential impact on dairy traits using whole ruminant genome SNP datasets

Scientific Reports, 2021
MicroRNAs are small noncoding RNAs that have important roles in the lactation process and milk biosynthesis. Some polymorphisms have been studied in various livestock species from the perspective of pathology or production traits. To target variants that
Céline Bourdon, Mekki Boussaha, Philippe Bardou, Marie-Pierre Sanchez, Sandrine Le Guillou, Thierry Tribout, Hélène Larroque, Didier Boichard, Rachel Rupp, Fabienne Le Provost, Gwenola Tosser-Klopp   +10 more
doaj   +1 more source

DisVar: an R library for identifying variants associated with diseases using large-scale personal genetic information [PDF]

PeerJ, 2023
Background Genetic variants may potentially play a contributing factor in the development of diseases. Several genetic disease databases are used in medical research and diagnosis but the web applications used to search these databases for disease ...
Khunanon Chanasongkhram, Kasikrit Damkliang, Unitsa Sangket   +2 more
doaj   +2 more sources

Reanalysis and reclassification of rare genetic variants associated with inherited arrhythmogenic syndromes [PDF]

, 2020
Background: Accurate interpretation of rare genetic variants is a challenge for clinical translation. Updates in recommendations for rare variant classification require the reanalysis and reclassification.
Abou Tayoun, Ackerman, Ackerman, Amendola, Bennett, Blekhman, Bombard, Campuzano, Chen, David, Denham, Dunn, Eilbeck, El Mecky, Harrison, Kobayashi, Lek, Macklin, Moreno, Priori, Richards, Richards, Semsarian, Smith, Tsai, Vears, Walsh, Wordsworth   +27 more
core   +1 more source

Genomic Diversity Evaluation of Populus trichocarpa Germplasm for Rare Variant Genetic Association Studies

Frontiers in Genetics, 2020
Genome-wide association studies are powerful tools to elucidate the genome-to-phenome relationship. In order to explain most of the observed heritability of a phenotypic trait, a sufficient number of individuals and a large set of genetic variants must ...
Anthony Piot, Anthony Piot, Anthony Piot, Julien Prunier, Julien Prunier, Julien Prunier, Nathalie Isabel, Jaroslav Klápště, Yousry A. El-Kassaby, Juan Carlos Villarreal Aguilar, Juan Carlos Villarreal Aguilar, Juan Carlos Villarreal Aguilar, Ilga Porth, Ilga Porth, Ilga Porth   +14 more
doaj   +1 more source

Rare Variants of Putative Candidate Genes Associated With Sporadic Meniere's Disease in East Asian Population [PDF]

, 2020
Objectives: The cause of Meniere's disease (MD) is unclear but likely involves genetic and environmental factors. The aim of this study was to investigate the genetic basis underlying MD by screening putative candidate genes for MD.
Arweiler-Harbeck, Begovich, Brama, Cabrera, Campbell, de Lima, Doi, Dong, Eichler, Filipo, Flook, Foster, Frejo, Frejo, Frejo, Furuta, Gallego-Martinez, Gazquez, Gazquez, Girirajan, Greco, Hietikko, Huang, Kawaguchi, Khorsandi, Kim, Kimura, Klar, Koo, Lee, Lee, Lee, Lee, Lettre, Li, Li, Lien, Lien, Liew, Lopez-Escamez, Lopez-Escamez, Lopez-Escamez, Lopez-Escamez, Marcus, Martín-Sierra, Martín-Sierra, Melchiorri, Meng, Morrison, Mustelin, Nair, Nair, Nair, Nishio, Oliveira-Paula, Qin, Rasheed, Rauch, Recupero, Reich, Rentzsch, Requena, Requena, Requena, Requena, Roman-Naranjo, Saint Pierre, Schwanitz, Shu, Sun, Takumida, Teggi, Teggi, Teggi, Teranishi, Tilburg, Tomoda, Uchida, Vrabec, Yang, Yazdani, Yazdani   +81 more
core   +1 more source