Categoría: Articulos
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Tracing fetal DNA through maternal blood can help reduce prenatal testing errors
Understanding how fetal DNA travels in a pregnant woman’s blood could unlock the next generation of prenatal screening, according to a new paper published in Science Advances.
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RNA splicing evidence enables robust classification of BRCA1 exon 18 variants: Results from the ENIGMA consortium
(The American Journal of Human Genetics 113, 1894–1915, September 3; 2026)
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The new article is now available. Intractable & Rare Diseases Research
[ Advance Publication ] [ Title ] Reducing diagnostic delay among patients with designated intractable diseases in Japan: A proposed multi-stakeholder project and social value evaluation framework [ Author ] Hiroyuki Tanaka [ Advance Pub. date ] 2026-…
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The new article is now available. Intractable & Rare Diseases Research
[ Advance Publication ] [ Title ] Reducing diagnostic delay among patients with designated intractable diseases in Japan: A proposed multi-stakeholder project and social value evaluation framework [ Author ] Hiroyuki Tanaka [ Advance Pub. date ] 2026-…
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Researchers report early results from therapy designed for a single patient with a rare genetic form of ALS
Mayo Clinic researchers report encouraging early results from an experimental therapy targeting the genetic cause of a rare form of amyotrophic lateral sclerosis, or ALS.
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Researchers report early results from therapy designed for a single patient with a rare genetic form of ALS
Mayo Clinic researchers report encouraging early results from an experimental therapy targeting the genetic cause of a rare form of amyotrophic lateral sclerosis, or ALS.
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EndoPRS-SS: Summary-statistic based incorporation of endophenotypes to improve risk prediction
Endophenotypes are critical biological markers with genetic links to disease progression. We previously developed endoPRS, a multi-trait polygenic risk score (PRS) method that leverages endophenotype data to improve disease risk prediction. However, endoPRS requires individual-level genotype-phenotype data for model fitting, restricting its broader use. To address this, we introduce endoPRS-SS, an extension which enables PRS…
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Clinical and genetic features, surgical management, and longitudinal follow-up in two children with progressive osseous heteroplasia
BackgroundProgressive osseous heteroplasia (POH) is an ultrarare disorder characterized by heterotopic ossification that progresses from the skin and subcutaneous tissues into deeper connective tissues. Most affected individuals harbor heterozygous ina…