Categoría: Articulos
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Consistent unmet needs and fragmented care in rett syndrome: insights from a multi-country European caregiver study
Background Results Conclusions
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Optimizing Pathogen Detection in Clinical Metagenomics
Metagenomic next-generation sequencing for identifying pathogens has been increasingly used as a diagnostic tool. Prior research mostly emphasizes the selection of classification software based on reads above 100 bp, neglecting the influence of sequenc…
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Genomic cancer driver study reveals new clues to why some prostate cancers become aggressive
Why do some prostate cancers grow slowly for years, while others progress quickly to life-threatening metastatic disease? An international team of researchers co-led by the Ontario Institute for Cancer Research (OICR) and the University of Copenhagen h…
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Genomic cancer driver study reveals new clues to why some prostate cancers become aggressive
Why do some prostate cancers grow slowly for years, while others progress quickly to life-threatening metastatic disease? An international team of researchers co-led by the Ontario Institute for Cancer Research (OICR) and the University of Copenhagen h…
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Uterine leiomyomas in HLRCC: a scoping review of presentation, histopathology, treatment patterns, and reproductive implications
European Journal of Human Genetics, Published online: 16 October 2026; doi:10.1038/s41431-026-02255-yUterine leiomyomas in HLRCC: a scoping review of presentation, histopathology, treatment patterns, and reproductive implications
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Maternal perspectives on sharing newborn genomic data
European Journal of Human Genetics, Published online: 16 October 2026; doi:10.1038/s41431-026-02258-9Maternal perspectives on sharing newborn genomic data
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Researchers develop new AI tool to better predict stroke risk
Researchers from the University of Technology Sydney (UTS) have developed an AI model that analyzes a person’s DNA to better identify genetic risk factors for stroke, paving the way for more personalized risk assessments.
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Researchers develop new AI tool to better predict stroke risk
Researchers from the University of Technology Sydney (UTS) have developed an AI model that analyzes a person’s DNA to better identify genetic risk factors for stroke, paving the way for more personalized risk assessments.
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DNA sequencing reveals how rare cancer spread between twins before birth
Two identical sisters came into the world carrying the same rare cancer. They lost their lives to an undifferentiated sarcoma, a soft-tissue cancer driven by a unique gene fusion (MN1::ZNF341). The story began before they were born, when pregnancy imag…
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DNA sequencing reveals how rare cancer spread between twins before birth
Two identical sisters came into the world carrying the same rare cancer. They lost their lives to an undifferentiated sarcoma, a soft-tissue cancer driven by a unique gene fusion (MN1::ZNF341). The story began before they were born, when pregnancy imag…