Latest updates for Single Nucleotide Variants

Fresh curated links around Single nucleotide variants are collected here so marketers can spot useful updates and turn timely ideas into posts faster.

Recent items include:

  • Functional profiling of 2,193 <i>ASS1</i> missense variants: Insights into variant pathogenicity and epistat
  • Single nucleus RNA sequencing identifies new treatment targets for rare sinonasal cancers
  • Nanopore sequencing advances pseudouridine detection in ribosomal RNA

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journals.plos.org /4 weeks ago

Functional profiling of 2,193 &lt;i&gt;ASS1&lt;/i&gt; missense variants: Insights into variant pathogenicity and epistat...

by Russell S. Lo, Gareth A. Cromie, Michelle Tang, Amy Sirr, Ljubica Caldovic, Hiroki Morizono, Nicholas Ah Mew, Andrea Gropman, Aimée M. Dudley Sequence variants in the urea cycl...

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rna-seqblog.com /1 week ago

Single nucleus RNA sequencing identifies new treatment targets for rare sinonasal cancers

RNA sequencing reveals distinct cellular programs and therapeutic targets in rare sinonasal carcinomas, supporting precision oncology approaches tailored to specific tumor subtypes...

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rna-seqblog.com /1 month ago

Nanopore sequencing advances pseudouridine detection in ribosomal RNA

Nanopore direct RNA sequencing enables accurate, site-specific quantification of pseudouridine modifications in human ribosomal RNA, expanding opportunities for large-scale epitran...

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rna-seqblog.com /3 weeks ago

Systematic benchmarking of dorado basecalling models for RNA modification detection

..Nanopore RNA sequencing models can detect RNA modifications, but benchmark results reveal significant false positives and highlight the importance of controls for accurate epitra...

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journals.plos.org /3 weeks ago

GrassSV – hybrid method to detect structural variants in high throughput DNA-seq data

by Dominik Witczak, Krzysztof Sychla, Julia Wysocka, Artur Laskowski, Wojciech Frohmberg, Marta Glowacka, Alicja Dzik, Piotr Lukasiak, Jacek Blazewicz, Aleksandra Swiercz Genetic...

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Sources covering Single Nucleotide Variants

journals.plos.org

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journals.plos.org

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rna-seqblog.com

Recent coverage from public sources
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Related searches

Publications Direct RNA sequencing Nanopore sequencing RNA Modifications epitranscriptomics pseudouridine rna sequencing Basecalling Models Expression and Quantification IDH2 RNA modifi... Ribosomal RNA

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