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Updated: Jul 21, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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使用AlphaMissense在多发性肺炎患者中预测有价值的误解变体

Tianyuan Wang1, Jindi Ma1, Yuan Shu2

  • 1State Key Laboratory for Diagnosis and Treatment of Infectious Diseases, National Clinical Research Center for Infectious Diseases, Collaborative Innovation Center for Diagnosis and Treatment of Infectious Diseases, The First Affiliated Hospital, College of Medicine Zhejiang University Hangzhou China.

Clinical case reports
|January 31, 2024
PubMed
概括

AlphaMissense有效地预测了误解变体的病原性. 这项研究将AlphaMissense和Phenolyzer结合起来,使用外体序列测序在多微生物肺部感染病例中识别引起疾病的变体.

关键词:
化剂 化剂 化剂外基因组测序是指外基因组的测序.机器学习是机器学习.多次感染多次感染.

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相关概念视频

Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...