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ASHG 2025: Functional Impact of Non-Coding RNA Uncovered in Human Disease
Researchers introduced NaP-TRAP to measure effects of over one million 5'UTR variants, revealing key regulatory elements relevant to disease with nearly 95% of mutations in non-coding regions.
- Researchers from Yale and Stanford unveiled the Nascent Peptide-Translating Ribosome Affinity Purification assay, an immunocapture method measuring protein output by capturing mRNAs on actively translating ribosomes.
- Nearly 95% of disease-associated mutations occur in non-coding regions , but a lack of functional assays has limited understanding of their impact.
- Examining 5' UTR biology, the authors reported 'fail-safe' buffering mechanisms and used NaP-TRAP with machine learning to identify critical 5' UTR regulatory features beyond uORFs.
- The team intends to translate the resource into tools for clinical genetics by developing a predictive model for 5' UTR effects and using the variant catalogue to prioritize potential drug targets.
- Researchers at Boston Children's Hospital reported multi-omics IC/BPS findings combining exome sequencing with Nabsys 2.0, LLC's OhmX Platform using Electronic Genome Mapping.
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Nabsys Presents Novel Disease Insights and Advantages in Structural Variant Detection using OhmX™ Platform at American Society of Human Genetics (ASHG) 2025 Annual Meeting
Multi-omics study utilizing electronic genome mapping (EGM) reveals 70% of patients with interstitial cystitis/bladder pain syndrome (IC/BPS) have psychiatric comorbidities and uncovers novel proteomic and genetic insights int o IC/BPS
·Ridgway, United States
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ASHG 2025: Functional Impact of Non-Coding RNA Uncovered in Human Disease
In RNA molecules, the 5′ untranslated region (UTR) is located directly upstream of the start codon and plays a crucial role in post-transcriptional regulation by controlling RNA stability, cellular localization, and translation efficiency. While nearly 95% of disease-associated mutations occur in “non-coding regions,” including 5′ and 3′ UTRs, the lack of robust methods to measure the functional effects of non-coding variations limits our unders…
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Total News Sources30
Leaning Left1Leaning Right1Center7Last UpdatedBias Distribution78% Center
Bias Distribution
- 78% of the sources are Center
78% Center
11%
C 78%
11%
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