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Sanger Sequencing

Sanger Sequencing

DNA sequencing is a fundamental technique that is routinely used in the biological sciences. This method can be applied to a range of questions at different scales - from the sequencing of a cloned DNA fragment or the study of a mutation in a gene up to whole-genome sequencing. However, despite the widespread use of sequencing today, it was not until 1977 that Fredrick Sanger and his collaborators developed the chain-termination method to decode DNA sequences. It relies on the separation of a...

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Updated: Jun 16, 2026

High-throughput Identification of Gene Regulatory Sequences Using Next-generation Sequencing of Circular Chromosome Conformation Capture 4C-seq

High-throughput Identification of Gene Regulatory Sequences Using Next-generation Sequencing of Circular Chromosome Conformation Capture 4C-seq

Published on: October 5, 2018

高通量补充组件4基因组序列分析与C4Investigator

Wesley M Marin¹, Danillo G Augusto^1,2,3, Kristen J Wade¹

¹Weill Institute for Neurosciences, Department of Neurology, University of California San Francisco, San Francisco, California, USA.

|October 30, 2023

概括

此摘要是机器生成的。

补充成分4 (C4) 基因变异影响免疫功能. 一个新的生物信息学工具C4Investigator能够对C4A和C4B序列进行高通量分析,揭示广泛的遗传多样性和潜在的疾病关联.

关键词:

C4 C4 C4 C4 C4 C4 C4 C4 C4 C4 C4 C4 C4 C4 C4 C4 C4 C4 C4 C4 C4 C4 生物信息学管道中的一个.补充组成部分补充组成部分.副本编号副本编号副本编号基因型定制是基因型定制.免疫遗传学免疫遗传学

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Detection of Rare Mutations in CtDNA Using Next Generation Sequencing

Detection of Rare Mutations in CtDNA Using Next Generation Sequencing

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Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER

Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER

Published on: June 23, 2012

相关实验视频

Last Updated: Jun 16, 2026

High-throughput Identification of Gene Regulatory Sequences Using Next-generation Sequencing of Circular Chromosome Conformation Capture 4C-seq

High-throughput Identification of Gene Regulatory Sequences Using Next-generation Sequencing of Circular Chromosome Conformation Capture 4C-seq

Published on: October 5, 2018

Detection of Rare Mutations in CtDNA Using Next Generation Sequencing

Detection of Rare Mutations in CtDNA Using Next Generation Sequencing

Published on: August 24, 2017

Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER

Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER

Published on: June 23, 2012

科学领域:

遗传学和基因组学在
免疫学免疫学免疫学
生物信息学是一种生物信息学.

背景情况:

补充成分4 (C4) 基因 (C4A和C4B) 对免疫系统通路至关重要.
C4基因表现出复杂的变异,包括拷贝数,大小 (长/短形式) 和与血液组抗原 (罗杰斯/奇多) 的联系.
之前对C4变异的高通量基因组分析由于高序列相似性和遗传复杂性而具有挑战性.

研究的目的:

开发一种新的生物信息学管道,C4Investigator,用于对人类C4A和C4B序列进行全面的高通量表征.
为了从短读测序数据中对C4基因拷贝数,大小变异和核酸级序列变异进行详细分析.
研究人类群体中C4A和C4B遗传变异的程度.

主要方法:

开发一个名为C4Investigator的生物信息学管道.
配对终端定向或全基因组测序数据的输入处理.
对C4基因复制数,C4A/C4B变异,罗杰斯/奇多表位和长/短形式 (C4L/C4S) 的分析.
为核酸水平分析生成完全对齐的C4A和C4B序列.

主要成果:

C4Investigator成功地从短读数据中描述了全面的C4A和C4B序列变异.
对1000个基因组项目的数据集的分析表明,C4基因具有高度的多样性.
许多已识别的变异有可能显著影响C4蛋白功能和免疫反应.

结论:

C4Investigator为复杂的C4基因变异的高通量基因组分析提供了强大的解决方案.
高度的C4多样性强调了其在免疫系统调节和疾病易感性方面的重要性.
对C4变异的进一步研究可以阐明它们在自身免疫和致病性疾病中的作用.