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Diana Baralle on Muck Rack

Diana Baralle

As seen in: Nature, Archives of Disease in Childhood, Journal of Medical Genetics (JMG), MDPI, Genome Medicine
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Articles

Paired DNA and RNA sequencing uncovers common and rare variation regulating human retinal gene expression

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By Jacob Sampson, Ayellet V. Segrè, Kinga M. Bujakowska, Simon Clark, Paul Bishop, Diana Baralle, Stacey Holden, Beverley Anderson, Andrew Hayes, Huw Thomas Verified, Raymond T. O’Keefe, Siddharth Banka, Graeme Black, Panagiotis I. Sergouniotis, Jamie M. Ellingford, Jospin Al-Deek, Rahmat A. Kemal
| Nature Verified
Abstract Genetic disorders impacting vision affect millions of individuals worldwide, including age-related macular degeneration (common) and inherited retinal disorders (rare). There is an incomplete understanding of the impact of genetic variation on gene expression in the human retina and its role in genetic disorders.
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HiFi long-read RNA sequencing enhances clinical diagnostics in rare disorders

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By Carolina Jaramillo Oquendo, Federico Ferraro, Htoo A. Wai, Sam Holt, David Bunyan, Laura Donker Kaat, Jeff J. Zhou, Sarah Ennis, John Holloway, Diana Baralle, Heather Ferrao, Herma van der Linde, Evita Karelioti, Liz Tseng, Harsharan Dhillon, Marieke van Dooren, Tjakko J. van Ham
| Nature Verified
Abstract Splice-disrupting variants are estimated to account for one-third of disease-causing variants, yet many remain underrepresented in clinical databases due to limitations in detecting splicing changes beyond canonical splice sites. Short-read RNA sequencing (RNA-seq) has proved to be a valuable complement in clinical practice to address this gap, however, the added value of long-read RNA-seq is unclear.
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Reduced penetrance of gene variants causing amyotrophic lateral sclerosis

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By Diana Baralle
| Journal of Medical Genetics (JMG)
Reduced penetrance of gene variants causing amyotrophic lateral sclerosis Statistics from Altmetric.com Request Permissions If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.
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