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Chromosomal Mutations
The evolutionary process of species is primarily determined by the variants within them, which are naturally selected according to the competitive...
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Recombination and Chromosomal Rearrangements
Maintenance of chromosome stability is essential for the survival of all organisms and the transmission of their genetic information. Chromosomes...
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Chromosomal conservatism vs chromosomal megaevolution: enigma of karyotypic evolution in Lepidoptera
In the evolution of many organisms, periods of slow genome reorganization (= chromosomal conservatism) are interrupted by bursts of numerous...
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Determining Complete Chromosomal Haplotypes by mLinker
Haplotype (“haploid genotype”) phase is the combination of genotypes at sites of genetic variation along a chromosome [1]. We previously demonstrated...
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Diagnostic yield of the chromosomal microarray analysis in turkish patients with unexplained development delay/ıntellectual disability(ID), autism spectrum disorders and/or multiple congenital anomalies and new clinical findings
BackgroundChromosomal microarray analysis is an essential tool for copy number variants detection in patients with unexplained developmental...
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Multiple Chromosomal Polymorphism in Birch Mice of the subtilis Group (Rodentia, Dipodoidea, Sicista) from the Saratov Right Bank of the Volga River
AbstractCytogenetic analysis (routine, G-, C-, AgNOR-chromosome banding) allowed us to obtain new data on chromosomal polymorphism in the population (
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High-throughput evaluation of genetic variants with prime editing sensor libraries
Tumor genomes often harbor a complex spectrum of single nucleotide alterations and chromosomal rearrangements that can perturb protein function....
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The spectrum of chromosomal translocations in the Arab world: ethnic-specific chromosomal translocations and their relevance to diseases
Chromosomal translocations (CTs) are the most common type of structural chromosomal abnormalities in humans. CTs have been reported in several...
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Novel MEI1 mutations cause chromosomal and DNA methylation abnormalities leading to embryonic arrest and implantation failure
This study presents a case of a female infertile patient suffering from embryonic arrest and recurrent implantation failure. The primary objective...
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Mammalian Cytogenetics and Its Contribution to the Development of Chromosomal Diagnoses and the Species System
Abstract —A review of studies on the chromosome sets of Palaearctic mammals carried out by Russian karyologists and an important contribution to...
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Chromosomal copy number and mutational status are required to authenticate ovarian cancer cell lines as appropriate cell models
BackgroundThe mutational status of ovarian cancer cell line IGROV-1 is inconsistent across the literature, suggestive of multiple clonal populations...
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Distinct structural variants and repeat landscape shape the genomes of the ancient grapes Aglianico and Falanghina
Mounting evidence recognizes structural variations (SVs) and repetitive DNA sequences as crucial players in sha** the existing grape phenotypic...
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Combining cytogenetic and genomic technologies for deciphering challenging complex chromosomal rearrangements
Complex chromosomal rearrangements (CCRs), a class of structural variants (SVs) involving more than two chromosome breaks, were classically thought...
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Prevalence and patterns of chromosomal abnormalities in patients suspected of genetic disorders: insights from a study in Ouagadougou, Burkina Faso
BackgroundChromosomal abnormalities contribute significantly to human morbidity and mortality, leading to various pathologies. This study aimed to...
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Building in vitro tools for livestock genomics: chromosomal variation within the PK15 cell line
BackgroundCultured porcine cell lines are powerful tools for functional genomics and in vitro phenotypic testing of candidate causal variants....
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Cas9 variants expand the targeting scope of base editing systems in bacteria
Base editors (BEs) consist of partially active Cas9 homologs fused to nucleobase-converting DNA deaminases along with certain accessory proteins. The...
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Disentangling the roles of aneuploidy, chromosomal instability and tumour heterogeneity in develo** resistance to cancer therapies
Aneuploidy is defined as the cellular state of having a number of chromosomes that deviates from a multiple of the normal haploid chromosome number...
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Detection of chromosomal aneuploidy in ancient genomes
Ancient DNA is a valuable tool for investigating genetic and evolutionary history that can also provide detailed profiles of the lives of ancient...
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Identification of variants in genes associated with hypertrophic cardiomyopathy in Mexican patients
The objective of this work was to identify genetic variants in Mexican patients diagnosed with hypertrophic cardiomyopathy (HCM). According to world...
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Ancestral alleles defined for 70 million cattle variants using a population-based likelihood ratio test
BackgroundThe study of ancestral alleles provides insights into the evolutionary history, selection, and genetic structures of a population. In...
