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Browsing Tag

Exome sequencing

4 posts
GGenetics
Nabsys Presents Novel Disease Insights and Advantages in Structural Variant Detection using OhmXâ„¢ Platform at American Society of Human Genetics (ASHG) 2025 Annual Meeting
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Nabsys Presents Novel Disease Insights and Advantages in Structural Variant Detection using OhmXâ„¢ Platform at American Society of Human Genetics (ASHG) 2025 Annual Meeting

  • October 17, 2025
Multi-omics study utilizing electronic genome mapping (EGM) reveals 70% of patients with interstitial cystitis/bladder pain syndrome (IC/BPS) have…
GGenetics
Baylor Genetics Presents New Data on Clinical and Diagnostic Utility of RNA Sequencing for Rare Disease at the American Society of Human Genetics 2025 Annual Meeting
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Baylor Genetics Presents New Data on Clinical and Diagnostic Utility of RNA Sequencing for Rare Disease at the American Society of Human Genetics 2025 Annual Meeting

  • October 15, 2025
Baylor Genetics Research underscores clinical utility of RNA sequencing in providing critical insights to drive diagnoses and medical…
GGenetics
New research offers hope to preserve vision in autosomal dominant optic atrophy
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Insights into clinical features and genetic variants of Cornelia de Lange syndrome in China

  • August 30, 2025
Cornelia de Lange syndrome (CdLS) is a rare genetic disorder with symptoms, including facial anomalies (such as fused…
GGenetics
Ultrasound and genetic findings in a case series of fetuses presenting vertebral defects | BMC Pregnancy and Childbirth
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Ultrasound and genetic findings in a case series of fetuses presenting vertebral defects | BMC Pregnancy and Childbirth

  • August 16, 2025
Examination of the fetal spine is an important part of routine prenatal ultrasound screening. The examination is significantly…
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