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Identification of transposable element families from pangenome polymorphisms
BackgroundTransposable Elements (TEs) are segments of DNA, typically a few hundred base pairs up to several tens of thousands bases long, that have...
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Dog leukocyte antigen genoty** across class I and class II genes in beagle dogs as laboratory animals
Dog leukocyte antigen (DLA) polymorphisms have been found to be associated with inter-individual variations in the risk, susceptibility, and severity...
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Sequencing-based analysis of microbiomes
Microbiomes occupy a range of niches and, in addition to having diverse compositions, they have varied functional roles that have an impact on...
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Two-stage strategy using denoising autoencoders for robust reference-free genotype imputation with missing input genotypes
Widely used genotype imputation methods are based on the Li and Stephens model, which assumes that new haplotypes can be represented by modifying...
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Methods and applications of genome-wide profiling of DNA damage and rare mutations
DNA damage is a threat to genome integrity and can be a cause of many human diseases, owing to either changes in the chemical structure of DNA or...
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Congenital anomalies in Santa Catarina, Southern Brazil: macroregional and temporal birth prevalence for the period 2011–2020
Congenital anomalies (CAs) are an important cause of infant mortality and efficient surveillance is necessary for their prevention. Therefore, the...
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A proposal for an inclusive working definition of genetic discrimination to promote a more coherent debate
Genetic discrimination is an evolving phenomenon that impacts fundamental human rights such as dignity, justice and equity. Although, in the past,...
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Single-cell epigenomic reconstruction of developmental trajectories from pluripotency in human neural organoid systems
Cell fate progression of pluripotent progenitors is strictly regulated, resulting in high human cell diversity. Epigenetic modifications also...
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A high-density 1,024-channel probe for brain-wide recordings in non-human primates
Large-scale neural population recordings with single-cell resolution across the primate brain remain challenging. Here we introduce the Neuroscroll...
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Epigenetic regulation of major histocompatibility complexes in gastrointestinal malignancies and the potential for clinical interception
BackgroundGastrointestinal malignancies encompass a diverse group of cancers that pose significant challenges to global health. The major...
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Methylome analysis in girls with idiopathic central precocious puberty
BackgroundGenetic and environmental factors are implicated in many developmental processes. Recent evidence, however, has suggested that epigenetic...
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Derivation and transcriptional reprogramming of border-forming wound repair astrocytes after spinal cord injury or stroke in mice
Central nervous system (CNS) lesions become surrounded by neuroprotective borders of newly proliferated reactive astrocytes; however, fundamental...
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HLA alleles, haplotypes frequencies, and their association with hematological disorders: a report from 1550 families whose patients underwent allogeneic bone marrow transplantation in Egypt
HLA alleles are representative of ethnicities and may play important roles in predisposition to hematological disorders. We analyzed DNA samples for...
