Categoría: Articulos
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Repeating stretch of DNA offers a new clue to Alzheimer’s susceptibility
A three-letter sequence repeating along a stretch of DNA could offer new clues about why some people are more susceptible to Alzheimer’s disease than others. The sequence, CCG, sits in a region of DNA that controls the gene FAM193B.
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Repeating stretch of DNA offers a new clue to Alzheimer’s susceptibility
A three-letter sequence repeating along a stretch of DNA could offer new clues about why some people are more susceptible to Alzheimer’s disease than others. The sequence, CCG, sits in a region of DNA that controls the gene FAM193B.
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Deep intronic <i>NIPBL</i> variants underlie unresolved Cornelia de Lange syndrome revealed by integrated epigenomic and transcriptomic analysis
European Journal of Human Genetics, Published online: 19 October 2026; doi:10.1038/s41431-026-02259-8Deep intronic NIPBL variants underlie unresolved Cornelia de Lange syndrome revealed by integrated epigenomic and transcriptomic analysis
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Deep intronic <i>NIPBL</i> variants underlie unresolved Cornelia de Lange syndrome revealed by integrated epigenomic and transcriptomic analysis
European Journal of Human Genetics, Published online: 19 October 2026; doi:10.1038/s41431-026-02259-8Deep intronic NIPBL variants underlie unresolved Cornelia de Lange syndrome revealed by integrated epigenomic and transcriptomic analysis
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Efficient and Ultrasensitive Identification of Clinical Somatic Mutations by Modified Single Duplex DNA Sequencing
Conventional next-generation sequencing implementations have poor sensitivity for low-prevalence mutations because of their inherent error rate. Error suppression that reconciles individual strands of a DNA duplex can improve sensitivity. Concatenating…
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Case report: Harel–Yoon syndrome (ATAD3A p.Arg528Trp) with relative cognitive preservation despite severe motor impairment
BackgroundHarel–Yoon syndrome (HAYOS) is a rare neurometabolic disorder caused by pathogenic variants in the ATAD3A gene, a key regulator of mitochondrial dynamics and cellular homeostasis. Although a broad phenotypic spectrum has been described, the r…
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Single-cell transcriptome analysis of muscle and blood tissues from a patient with a rare homozygous ANO5 variant causing limb-girdle muscular dystrophy type R12
BackgroundLimb-girdle muscular dystrophy type R12 (LGMD R12) is a recessive genetic myopathy, typically caused by pathogenic variants in anoctamin-5 (ANO5), which encodes a multipass membrane protein localized to the sarcolemma and sarcoplasmic reticul…
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Evidence for Reduced Somatic T‐Cell Receptor Sequence Diversity Profiles Among Midwestern Amish in an Aging Cohort Study
Annals of Human Genetics, EarlyView.
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MYLK c.4079G>A, p.(Gly1360Asp) Variant Associated With Hereditary Thoracic Aortic Diseases and Early Onset Aortic Dissection
Annals of Human Genetics, EarlyView.
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Optimizing Pathogen Detection in Clinical Metagenomics: A Comprehensive Benchmarking of Bioinformatic Pipelines for Single-End Short Reads
Metagenomic next-generation sequencing for identifying pathogens has been increasingly utilized as a diagnostic tool. Prior research mostly emphasizes the selection of classification software based on reads above 100bp, neglecting the influence of sequ…