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Understanding genetic variants in context [PDF]

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

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

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

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

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

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

Accurate interpretation of genetic variants in sudden unexpected death in infancy by trio-targeted gene-sequencing panel analysis

Scientific Reports, 2021
In sudden unexpected death in infancy cases, postmortem genetic analysis with next-generation sequencing potentially can extract candidate genes associated with sudden death.
Keita Shingu, Takehiko Murase, Takuma Yamamoto, Yuki Abe, Yoriko Shinba, Masahide Mitsuma, Takahiro Umehara, Hiromi Yamashita, Kazuya Ikematsu   +8 more
doaj   +1 more source

Genetic variants associated with glaucomatous visual field loss in primary open-angle glaucoma

Scientific Reports, 2022
Primary open-angle glaucoma (POAG) is characterized by a progressive optic neuropathy with visual field loss. To investigate the genetic variants associated with visual field loss in POAG, Japanese POAG patients (n = 426) and control subjects (n = 246 ...
Fumihiko Mabuchi, Nakako Mabuchi, Yoichi Sakurada, Seigo Yoneyama, Kenji Kashiwagi, Zentaro Yamagata, Mitsuko Takamoto, Makoto Aihara, Takeshi Iwata, Kazuki Hashimoto, Kota Sato, Yukihiro Shiga, Toru Nakazawa, Masato Akiyama, Kazuhide Kawase, Mineo Ozaki, Makoto Araie   +16 more
doaj   +1 more source