相关实验视频

Updated: Jul 23, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

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SNPeffect 5.0:使用AlphaFold模型从下一代测序数据中提取的蛋白质编码变体的大规模结构表型

Kobe Janssen1,2, Ramon Duran-Romaña1,2, Guy Bottu3

  • 1Switch Laboratory, VIB-KU Leuven Center for Brain and Disease Research, Herestraat 49, 3000, Leuven, Belgium.

BMC bioinformatics
|July 18, 2023
PubMed
概括

这项研究引入了一个自动化的生物信息学管道,以分析误解遗传变异对蛋白质稳定性和聚合的影响. 该工具集成了多个预测器和结构数据库,用于从下一代测序数据进行全面分析.

关键词:
阿尔法折叠是什么意思阿尔法折叠编码误解变体的编码蛋白质聚合蛋白质的聚合.蛋白质的稳定性 蛋白质的稳定性在SNP效应.单个核酸变体的变体

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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila00:06

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

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Protein Folding01:25

Protein Folding

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Conserved Binding Sites

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Protein Folding Quality Check in the RER

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Conservation of Protein Domains Over Different Proteins

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Protein and Protein Structure

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Gene Families01:57

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Gene families consist of groups of genes proposed to have originated from a common ancestor. Typically these arise through events in which a gene or genes are mistakenly duplicated during cell division. Unlike their parent genes (which are subject to selection pressure to maintain function), these gene copies do not need to preserve their sequences and may evolve at a relatively faster rate.
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