Results 51 to 60 of about 289,756 (330)

Highly Variable Genomic Landscape of Endogenous Retroviruses in the C57BL/6J Inbred Strain, Depending on Individual Mouse, Gender, Organ Type, and Organ Location. [PDF]

open access: yes, 2017
Transposable repetitive elements, named the "TREome," represent ~40% of the mouse genome. We postulate that the germ line genome undergoes temporal and spatial diversification into somatic genomes in conjunction with the TREome activity.
Cho, Kiho   +3 more
core   +2 more sources

A genetic risk score for glioblastoma multiforme based on copy number variations

open access: yesCancer Treatment and Research Communications, 2021
Glioblastoma multiforme is the most common form of brain cancer. Several lines of evidence suggest that glioblastoma multiforme has a genetic basis. A genetic test that could identify people who are at high risk of developing glioblastoma multiforme ...
Charmeine Ko, James P. Brody
doaj   +1 more source

Whole genome analysis of a wine yeast strain [PDF]

open access: yes, 2001
Saccharomyces cerevisiae strains frequently exhibit rather specific phenotypic features needed for adaptation to a special environment. Wine yeast strains are able to ferment musts, for example, while other industrial or laboratory strains fail to do so.
Adams   +49 more
core   +3 more sources

Genome-Wide Detection of Single-Nucleotide and Copy-Number Variations of a Single Human Cell [PDF]

open access: yes, 2013
Kindred cells can have different genomes because of dynamic changes in DNA. Single cell sequencing is needed to characterize these genomic differences but has been hindered by whole-genome amplification bias, resulting in low genome coverage.
Chapman, Alec Randolph   +2 more
core   +1 more source

Influence of environmental factors and genetic variation on mitochondrial DNA copy number

open access: yesJournal of Animal Science, 2022
Abstract Mitochondrial DNA copy number (mtDNA CN) has been shown to be highly heritable and associated with traits of interest in humans. However, studies are lacking in the literature for livestock species such as beef cattle. In this study, 2,371 individuals from a crossbred beef population comprising the Germplasm Evaluation program ...
Leticia P Sanglard   +3 more
openaire   +4 more sources

New Regions With Molecular Alterations in a Rare Case of Insulinomatosis: Case Report With Literature Review

open access: yesFrontiers in Endocrinology, 2021
Insulinomatosis is characterized by monohormonality of multiple macro-tumors and micro-tumors that arise synchronously and metachronously in all regions of the pancreas, and often recurring hypoglycemia. One of the main characteristics of insulinomatosis
Kirill Anoshkin   +13 more
doaj   +1 more source

Performance of four modern whole genome amplification methods for copy number variant detection in single cells [PDF]

open access: yes, 2017
Whole genome amplification (WGA) has become an invaluable tool to perform copy number variation (CNV) detection in single, or a limited number of cells.
Cornelis, Senne   +5 more
core   +1 more source

DNA copy number, including telomeres and mitochondria, assayed using next-generation sequencing

open access: yesBMC Genomics, 2010
Background DNA copy number variations occur within populations and aberrations can cause disease. We sought to develop an improved lab-automatable, cost-efficient, accurate platform to profile DNA copy number.
Jackson Stuart   +10 more
doaj   +1 more source

AIRE variations in Addison's disease and autoimmune polyendocrine syndromes (APS):partial gene deletions contribute to APS I [PDF]

open access: yes, 2008
Udgivelsesdato: MarAutoimmune Addison's disease (AAD) is often associated with other components in autoimmune polyendocrine syndromes (APS). Whereas APS I is caused by mutations in the AIRE gene, the susceptibility genes for AAD and APS II are unclear ...
Bruland, O   +8 more
core   +1 more source

Mutations as Levy flights

open access: yes, 2021
Data from a long time evolution experiment with Escherichia Coli and from a large study on copy number variations in subjects with european ancestry are analyzed in order to argue that mutations can be described as Levy flights in the mutation space ...
Gonzalez, Augusto, Leon, Dario
core  

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