相关实验视频

Updated: Jun 22, 2025

Ultra-long Read Sequencing for Whole Genomic DNA Analysis

Ultra-long Read Sequencing for Whole Genomic DNA Analysis

Published on: March 15, 2019

人类基因组的一个全面的双重重复目录

Readman Chiu¹, Indhu-Shree Rajan-Babu², Jan M Friedman^2,3

¹Canada's Michael Smith Genome Sciences Centre, BC Cancer, Vancouver, BC V5Z 4S6, Canada.

medRxiv : the preprint server for health sciences

|July 1, 2024

概括

研究人员使用长读测序对272个人类基因组进行了超过1800万个并列重复位点的编目. 这扩大了对人类基因组的了解,并有助于区分引起疾病的突变和良性变异.

科学领域:

基因组学就是基因组学.
人类遗传学人类遗传学
生物信息学是一种生物信息学.

背景情况:

双重重复是关键的基因组元素,但它们的表征具有挑战性.
长读序列和分析软件的进步使大规模的人口研究成为可能.
了解串联重复变异是区分致病突变和多态变异的关键.

研究的目的:

在人类基因组中创建一个全面的合重复位点目录.
为了利用长时间读取的测序数据来进行合重复的种群规模基因定型.
为了提高与疾病相关的并联重复变异的识别.

主要方法:

来自各种长期阅读测序数据集的272个人类基因组的分析.
应用先进的软件进行并联重复表征.
双重重复位点的全基因组基因型定型.

主要成果:

创建了一个超过1800万个并列重复位置的目录.
许多已识别的位置在人类基因组中以前没有被注释.
有相当数量的这些位点表现出高多态性,并且位于编码序列内.

结论:

这项研究提供了广泛的人类双重重复的资源.
这些发现有助于从良性多态变异中区分病原性并列重复突变.
该目录有助于更深入地了解串联重复变异及其在人类健康和疾病中的作用.

更多相关视频

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

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

相关概念视频

Karyotyping

Karyotyping

Multi-species Conserved Sequences

Multi-species Conserved Sequences

Next-generation sequencing technologies have created large genomic databases of a variety of animals and plants. Ever since the human genome project was completed, scientists studied the genome of primates, mammals, and other phylogenetically distant living beings. Such large-scale studies have provided new insights into the evolutionary relationship between organisms.
Although the genome of each species varies greatly from each other, a few sequences are highly conserved. Such conserved...

Complementary DNA

Complementary DNA

Genome Annotation and Assembly

Genome Annotation and Assembly

The genome refers to all of the genetic material in an organism. It can range from a few million base pairs in microbial cells to several billion base pairs in many eukaryotic organisms. Genome assembly refers to the process of taking the DNA sequencing data and putting it all back together in a correct order to create a close representation of the original genome. This is followed by the identification of functional elements on the newly assembled genome, a process called genome annotation.

Genomics

Genomics

Genomics is the science of genomes: it is the study of all the genetic material of an organism. In humans, the genome consists of information carried in 23 pairs of chromosomes in the nucleus, as well as mitochondrial DNA. In genomics, both coding and non-coding DNA is sequenced and analyzed. Genomics allows a better understanding of all living things, their evolution, and their diversity. It has a myriad of uses: for example, to build phylogenetic trees, to improve productivity and...

Genomic DNA in Eukaryotes

Genomic DNA in Eukaryotes

Eukaryotes have large genomes compared to prokaryotes. To fit their genomes into a cell, eukaryotic DNA is packaged extraordinarily tightly inside the nucleus. To achieve this, DNA is tightly wound around proteins called histones, which are packaged into nucleosomes that are joined by linker DNA and coil into chromatin fibers. Additional fibrous proteins further compact the chromatin, which is recognizable as chromosomes during certain phases of cell division.