相关实验视频

Updated: Jul 18, 2025

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

Published on: June 15, 2011

人体外体测序和预测医学的前景:分析国际数据和自己的经验

Oleg S Glotov^1,2, Alexander N Chernov^1,3, Andrey S Glotov¹

¹Department of Genomic Medicine, D. O. Ott Research Institute of Obstetrics, Gynecology and Reproductology, 199034 St. Petersburg, Russia.

Journal of personalized medicine

|August 25, 2023

概括

整体外体序列测序 (WES) 能够对疾病相关变异和风险进行遗传查. 本综述介绍了人类遗传护照概念,用于诊断和预测各种遗传疾病.

科学领域:

基因组学就是基因组学.
临床遗传学临床遗传学
分子生物学分子生物学

背景情况:

全外体序列测序 (WES) 是一种强大的工具,用于选基因并识别与疾病相关的多态性.
外体序列测序有助于诊断单一性疾病,并评估个人未来的健康风险.
WES成为主要诊断技术的潜力超过了当前的基因组测序方法.

研究的目的:

建立人类遗传护照作为一种基于WES的新型临床概念.
探索WES在识别候选基因,变异和分子机制方面的应用.
审查WES在诊断,预测和治疗遗传疾病方面的作用.

主要方法:

使用WES对结构性和调节性基因进行大规模查.
确定与疾病相关的多形态的等位基因频率.
对影响蛋白质功能的遗传变化 (突变/多态) 的分析.

主要成果:

WES有助于检测致病性遗传变化.
外体序列测序有助于诊断单基性疾病和风险预测.
人类遗传护照概念是为全面的遗传评估而提出的.

结论:

WES为遗传性疾病提供了广泛的诊断和预测能力.
人类遗传护照概念利用WES进行个性化遗传洞察.
WES是一种多功能工具,具有广泛的应用,包括机会性选.

关键词:

人类单源性疾病人类单源性疾病寡生性和多因素性疾病.个性化医疗是个性化的医疗.整体外因子测序的测序

更多相关视频

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

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

Published on: April 4, 2018

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

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

Published on: August 20, 2019

相关概念视频

Evolutionary Relationships through Genome Comparisons

Evolutionary Relationships through Genome Comparisons

Genome comparison is one of the excellent ways to interpret the evolutionary relationships between organisms. The basic principle of genome comparison is that if two species share a common feature, it is likely encoded by the DNA sequence conserved between both species. The advent of genome sequencing technologies in the late 20th century enabled scientists to understand the concept of conservation of domains between species and helped them to deduce evolutionary relationships across diverse...

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...