Results 21 to 30 of about 1,002,198 (296)
Computational Prediction of Position Effects of Apparently Balanced Human Chromosomal Rearrangements. [PDF]
American Journal of Human Genetics, 2017 Interpretation of variants of uncertain significance, especially chromosomal rearrangements in non-coding regions of the human genome, remains one of the biggest challenges in modern molecular diagnosis. To improve our understanding and interpretation of
Cinthya J. Zepeda-Mendoza +21 more
semanticscholar +2 more sources
Mechanisms of structural chromosomal rearrangement formation
Molecular Cytogenetics, 2022 Structural chromosomal rearrangements result from different mechanisms of formation, usually related to certain genomic architectural features that may lead to genetic instability.
Bruna Burssed +3 more
doaj +1 more source
Gross Chromosomal Rearrangement at Centromeres
Biomolecules, 2023 Centromeres play essential roles in the faithful segregation of chromosomes. CENP-A, the centromere-specific histone H3 variant, and heterochromatin characterized by di- or tri-methylation of histone H3 9th lysine (H3K9) are the hallmarks of centromere chromatin.
Ran Xu, Ziyi Pan, Takuro Nakagawa
openaire +3 more sources
Molecular Ecology, 2020 Gene flow has tremendous importance for local adaptation, by influencing the fate of de novo mutations, maintaining standing genetic variation and driving adaptive introgression.
H. Cayuela +14 more
semanticscholar +1 more source
A pipeline for complete characterization of complex germline rearrangements from long DNA reads
Genome Medicine, 2020 Background Many genetic/genomic disorders are caused by genomic rearrangements. Standard methods can often characterize these variations only partly, e.g., copy number changes or breakpoints.
Satomi Mitsuhashi +4 more
doaj +1 more source
Insights into the origin of the high variability of multivalent-meiotic associations in holocentric chromosomes of Tityus (Archaeotityus) scorpions. [PDF]
PLoS ONE, 2018 Scorpions represent an intriguing group of animals characterized by a high incidence of heterozygous chromosomal rearrangements. In this work, we examined six species of Tityus (Archaeotityus) from Brazilian fauna with a particular focus on elucidating ...
Viviane Fagundes Mattos +3 more
doaj +1 more source
Genes, 2020 Reptiles are notable for the extensive genomic diversity and species richness among amniote classes, but there is nevertheless a need for detailed genome-scale studies. Although the monophyletic amniotes have recently been a focus of attention through an
S. F. Ahmad +4 more
semanticscholar +1 more source
Chromosomal rearrangements and their neoantigenic potential in mesothelioma
Translational Lung Cancer Research, 2020 Chromosomal rearrangements are a defining molecular feature of mesothelioma that are not readily detected by standard DNA sequencing approaches but could be detected by whole genome sequencing methods such as mate-pair sequencing.
A. Mansfield, T. Peikert, G. Vasmatzis
semanticscholar +1 more source
BMC Microbiology, 2010 Background The chromosome of Streptomyces has been shown to be unstable, frequently undergoing gross chromosomal rearrangements. However, the mechanisms underlying this phenomenon remain unclear, with previous studies focused on two chromosomal ends as ...
Wen Ying +5 more
doaj +1 more source
Seven-fluorochrome mouse M-FISH for high-resolution analysis of interchromosomal rearrangements [PDF]
, 2003 The mouse has evolved to be the primary mammalian genetic model organism. Important applications include the modeling of human cancer and cloning experiments. In both settings, a detailed analysis of the mouse genome is essential.
Geigl, J. +5 more
core +1 more source