Tag: <span>genetic information</span>

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Long read sequencing reveals more genetic information while cutting time and cost of rare disease diagnoses

Peer-Reviewed Publication University of California – Santa Cruz FacebookXLinkedInWeChatBlueskyMessageWhatsAppEmail image:  Ph.D. student Shloka Negi analyzes long-read sequencing data in the UC Santa Cruz Computational Genomics lab. view more  Credit: Shloka Negi, University of California – Santa Cruz One in every 10 people worldwide is impacted by a rare genetic disease but about 50% of them remain undiagnosed...

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Envisioning a new era: Complete genetic information from routine, telomere-to-telomere genomes

Karen H. Miga Evan E. Eichler DOI:https://doi.org/10.1016/j.ajhg.2023.09.011 SummaryAdvances in long-read sequencing and assembly now mean that individual labs can generate phased genomes that are more accurate and more contiguous than the original human reference genome. With declining costs and increasing democratization of technology, we suggest that complete genome assemblies, where both parental haplotypes are phased...

What is RNA?
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What is RNA?

By Michael Dhar published October 15, 2020 This flexible molecule tells the cell’s protein-making factories what DNA wants them to do, stores genetic information and may have helped life get its start. Artist’s interpretation of a strand of RNA. (Image credit: Shutterstock) More than just DNA’s lesser-known cousin, RNA plays a central role in turning genetic information into your...