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Browsing Tag

Medical genetics

3 posts
HHealth
De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa
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De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa

  • January 10, 2026
Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland Mathieu Quinodoz, Karolina Kaminska, Ana Belén Iglesias-Romero, Mukhtar…
GGenetics
Genetics emerging as backbone of modern medicine: Doctors | Nagpur News
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Genetics emerging as backbone of modern medicine: Doctors | Nagpur News

  • September 22, 2025
Nagpur: “Genetics is no longer a side branch but a central part of medical practice,” remarked Dr Shubha…
GGenetics
Structural variation in 1,019 diverse humans based on long-read sequencing
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Structural variation in 1,019 diverse humans based on long-read sequencing

  • July 24, 2025
Samples and DNA extraction We initially selected 1,064 samples from the 1kGP collection, sourcing genomic DNA from Coriell…
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