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Genetic Identification of Putative Hybrids between Grey Wolf and Golden Jackal
Abstract —We describe the results of genetic analysis of 11 phenotypically deviant individuals of grey wolf Canis lupus Linnaeus, 1758 sensu lato,...
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The Complete Mitochondrial Genome of the Mashen Pig (Sus scrofa)
AbstractMashen pig ( Sus scrofa ) is one of the famous local breeds in China. In this study, we sequenced and reported the complete mitochondrial...
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DNA Methylation in Aortic Aneurysms of Different Localizations
Abstract—Aortic aneurysm (AA) is a life-threatening condition, and aortic rupture that is the complication of AA in the absence of emergency surgery...
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Apolipoprotein E in Alzheimer’s disease trajectories and the next-generation clinical care pathway
Alzheimer’s disease (AD) is a complex, progressive primary neurodegenerative disease. Since pivotal genetic studies in 1993, the ε4 allele of the...
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Reward prediction error neurons implement an efficient code for reward
We use efficient coding principles borrowed from sensory neuroscience to derive the optimal neural population to encode a reward distribution. We...
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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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Analysis of 10,478 cancer genomes identifies candidate driver genes and opportunities for precision oncology
Tumor genomic profiling is increasingly seen as a prerequisite to guide the treatment of patients with cancer. To explore the value of whole-genome...
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Estrogen-mediated DNMT1 and DNMT3A recruitment by EZH2 silences miR-570-3p that contributes to papillary thyroid malignancy through DPP4
BackgroundPapillary thyroid carcinoma (PTC) is a common endocrine malignancy. Studies have indicated that estrogen can regulate the expression of...
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How germ granules promote germ cell fate
Germ cells are the only cells in the body capable of giving rise to a new organism, and this totipotency hinges on their ability to assemble...
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Genotypic and phenotypic characteristics of sodium channel—associated epilepsy in Chinese population
Variants in voltage-gated sodium channel (VGSC) genes are implicated in seizures, epilepsy, and neurodevelopmental disorders, constituting a...
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Interaction between MED12 and ΔNp63 activates basal identity in pancreatic ductal adenocarcinoma
The presence of basal lineage characteristics signifies hyperaggressive human adenocarcinomas of the breast, bladder and pancreas. However, the...
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Calibrated prediction intervals for polygenic scores across diverse contexts
Polygenic scores (PGS) have emerged as the tool of choice for genomic prediction in a wide range of fields. We show that PGS performance varies...
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DNA packaging by molecular motors: from bacteriophage to human chromosomes
Dense packaging of genomic DNA is crucial for organismal survival, as DNA length always far exceeds the dimensions of the cells that contain it....
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Fetal hemoglobin induction in azacytidine responders enlightens methylation patterns related to blast clearance in higher-risk MDS and CMML
BackgroundAs new treatment options for patients with higher-risk myelodysplastic syndromes are emerging, identification of prognostic markers for...
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DNA methylation in peripheral blood is associated with renal aging and renal function decline: a national community study
BackgroundOlder patients are at risk for acute kidney injury and chronic kidney disease. Age-related increases in DNA methylation at CpG islands have...
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Genetic/epigenetic effects in NF1 microdeletion syndrome: beyond the haploinsufficiency, looking at the contribution of not deleted genes
NF1 microdeletion syndrome, accounting for 5–11% of NF1 patients, is caused by a deletion in the NF1 region and it is generally characterized by a...
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Next-generation data filtering in the genomics era
Genomic data are ubiquitous across disciplines, from agriculture to biodiversity, ecology, evolution and human health. However, these datasets often...