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Browsing Tag

Exome Sequencing

5 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
GeneDx Showcases Nearly 1M Exomes with 14 Studies at ASHG
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GeneDx Showcases Nearly 1M Exomes with 14 Studies at ASHG

  • October 8, 2025
10/08/2025…
GGenetics
New science improves clarity of genetic cancer tests
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New science improves clarity of genetic cancer tests

  • September 10, 2025
Cancer treatment is becoming more personalised. By considering a patient’s unique genetic and molecular profile, along with their…
GGenetics
Researchers find CFI deficiency alarmingly high in old order Amish
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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
Researchers find CFI deficiency alarmingly high in old order Amish
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Researchers find CFI deficiency alarmingly high in old order Amish

  • August 13, 2025
Researchers from the Children’s Hospital of Philadelphia (CHOP) and the Clinic for Special Children found that complement factor…
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