相关实验视频

Updated: Jun 22, 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

在发育迟缓/智力障碍儿童全外体测序后逆表型化 - - 是例外还是必要?

Nikola Ilic¹, Nina Maric², Ales Maver³

¹Clinical Genetics Outpatient Clinic, Mother and Child Health Care Institute of Serbia "Dr Vukan Cupic", 11070 Belgrade, Serbia.

|June 27, 2024

概括

全外体测序 (WES) 诊断了66%的儿科发育迟缓/智力障碍 (DD/ID) 病例. 反向表型化 (RP) 对于复杂的诊断至关重要,特别是当WES最初是负面的时.

科学领域:

临床遗传学临床遗传学
基因组学就是基因组学.
儿科神经学儿科神经学

背景情况:

发育迟缓/智力障碍 (DD/ID) 在儿科中是一个重大的诊断挑战.
确定DD/ID的遗传病因对于准确的诊断,预后和管理至关重要.
传统的遗传检测方法在复杂的病例中可能并不总能产生诊断.

研究的目的:

为了评估全外体序列测序 (WES) 的诊断产量在DD/ID的儿科患者中.
评估反向表型化 (RP) 在改进诊断中的实用性,特别是在之前有负面遗传测试的情况下.
探索神经网络模型对WES和RP患者选择的预测能力.

主要方法:

整体外体序列测序 (WES) 在100名患有DD/ID的儿科患者队列中进行.
应用反向表型 (RP) 来分析WES数据和临床信息.
开发了神经网络模型,以预测成功的WES和RP的可能性.

主要成果:

在研究队列中,WES的诊断收益率为66%.
在诊断最初遗传检测结果为负的病例时,RP发挥了重要作用,并且在50%的阳性WES发现中被表明.
确定的遗传条件显示出显著的异质性,突出了不同的病因因素.
神经网络在患者选择方面的预测性表现中度至异常.

结论:

WES是儿科DD/ID的有效诊断工具,特别是当代谢异常存在时.
RP显著提高了诊断能力,特别是在复杂和以前未被诊断的病例中.
整合WES,RP和预测建模提供了一种全面的方法来了解DD/ID的遗传情景,改善患者管理和遗传咨询.

关键词:

发育迟缓 (DD) 是一种发育迟缓.智力障碍 (ID) 是一种智力障碍.神经网络分析神经网络分析反向表型化 (RP) 是指反向的表型化.整体外因子测序 (WES) 测序

更多相关视频

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

In Vivo Modeling of the Morbid Human Genome using Danio rerio

In Vivo Modeling of the Morbid Human Genome using Danio rerio

Published on: August 24, 2013

相关概念视频

Genetic Screens

Genetic Screens

Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which...

Pleiotropy

Pleiotropy

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...