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Updated: Jan 10, 2026

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
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Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

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使用IsoRanker进行长读转录组分析,用于识别孟德尔条件下的致病变体.

Yong-Han Hank Cheng1, Adriana E Sedeño-Cortés2, Jane E Ranchalis2

  • 1Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.

medRxiv : the preprint server for health sciences
|November 26, 2025
PubMed
概括

IsoRanker是一个新的转录学框架,通过检测异常基因和异型表达来识别引起疾病的非编码变体. 这种方法有助于诊断罕见疾病,为非编码变体提供功能性证据.

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相关概念视频

Ribosome Profiling02:24

Ribosome Profiling

Ribosome profiling or ribo-sequencing is a deep sequencing technique that produces a snapshot of active translation in a cell. It selectively sequences the mRNAs protected by ribosomes to get an insight into a cell’s translation landscape at any given point in time.
Applications of ribosome profiling
Ribosome profiling has many applications, including in vivo monitoring of translation inside a particular organ or tissue type and quantifying new protein synthesis levels.
The technique...
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