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Targeting oncogenic TERT promoter variants by allele-specific epigenome editing
BackgroundActivation of dominant oncogenes by small or structural genomic alterations is a common driver mechanism in many cancers. Silencing of such...
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Upstream open reading frame-introducing variants in patients with primary familial brain calcification
More than 50% of patients with primary familial brain calcification (PFBC), a rare neurological disorder, remain genetically unexplained. While some...
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NGS-based targeted sequencing identified six novel variants in patients with Duchenne/Becker muscular dystrophy from southwestern China
BackgroundAt present, Multiplex ligation-dependent probe amplification (MLPA) and exome sequencing are common gene detection methods in patients with...
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Genoty**, characterization, and imputation of known and novel CYP2A6 structural variants using SNP array data
CYP2A6 metabolically inactivates nicotine. Faster CYP2A6 activity is associated with heavier smoking and higher lung cancer risk. The CYP2A6 gene is...
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Clinical Significance of Genetic Variants in Colon Cancer
Colon cancer (CC) is a serious global health problem detected, among other gastrointestinal (GI) tumors. Several risk factors suggested for the...
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Analysis of the Frequency of 10 Polymorphic Markers of CDKN2A and RB1 Genes in Russian Populations
The study of population frequencies of rare clinically significant alleles is a prerequisite of the development of personalized medicine. We...
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Phenome-wide association study on miRNA-related sequence variants: the UK Biobank
BackgroundGenetic variants in the coding region could directly affect the structure and expression levels of genes and proteins. However, the...
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Whole-exome sequencing identified recurrent and novel variants in benzene-induced leukemia
BackgroundGenome-wide sequencing may extensively identify potential pathogenic variants, which helps to understand mechanisms of tumorigenesis, but...
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Characterization of ACE2 naturally occurring missense variants: impact on subcellular localization and trafficking
BackgroundHuman angiotensin-converting enzyme 2 (ACE2), a type I transmembrane receptor physiologically acting as a carboxypeptidase enzyme within...
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Using coding and non-coding rare variants to target candidate genes in patients with severe tinnitus
Tinnitus is the phantom percept of an internal non-verbal set of noises and tones. It is reported by 15% of the population and it is usually...
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Characterizing Homozygous Variants in Bardet-Biedl Syndrome-Associated Genes Within Iranian Families: Unveiling a Founder Variant in BBS2, c.471G>A
Bardet–Biedl syndrome (BBS) is a rare inherited ciliopathy disorder characterized by a broad spectrum of clinical symptoms such as retinal dystrophy,...
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Molecular Characterization and Seasonal Variation in Expression of HSP70.1 Gene in Gangatiri Cattle and Its Comparison with Buffalo
Under tropical climate heat stress is a major challenge for livestock production. HSP70.1 is a ubiquitously expressed protein maintaining cellular...
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Combining a prioritization strategy and functional studies nominates 5’UTR variants underlying inherited retinal disease
Background5’ untranslated regions (5’UTRs) are essential modulators of protein translation. Predicting the impact of 5’UTR variants is challenging...
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Study of the Karachay Population Based on the Analysis of Ten Polymorphic DNA Loci
AbstractThe genetic structure of Karachay population has been studied on the basis of analysis of ten autosomal DNA markers (diallelic and...
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Poor statistical power in population-based association study of gene interaction
BackgroundStatistical epistasis, or “gene–gene interaction” in genetic association studies, means the nonadditive effects between the polymorphic...
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Emergence of Novel Leishmania Genetic Variants: A New Challenge to the Ongoing Leishmaniasis Elimination Program in the Indian Subcontinent
Leishmaniasis is a disease complex caused by the protozoan parasite, Leishmania with clinical manifestations ranging from cutaneous leishmaniasis...
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Features of Distribution of the Allelic Variant of the OAS1 Gene Associated with Severe Form of the Coronavirus Infection in the Russian and Global Populations
The study of the geographic distribution of the allelic variant of the OAS1 gene associated with severe form of the infections caused by RNA viruses...
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Whole genome sequencing of families diagnosed with cardiac channelopathies reveals structural variants missed by whole exome sequencing
Cardiac channelopathies are a group of heritable disorders that affect the heart’s electrical activity due to genetic variations present in genes...
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FarGen: Elucidating the distribution of coding variants in the isolated population of the Faroe Islands
Here we present results from FarGen Phase I exomes. This dataset is based on the FarGen cohort, which consists of 1,541 individuals from the isolated...
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The emergence of novel Iranian variants in sheeppox and goatpox viral envelope proteins with remarkably altered putative binding affinities with the host receptor
The outbreak of Sheep and goat pox (SGP) viral infections have increasingly been reported despite vaccinating the majority of sheep populations in...
