相关实验视频

Updated: Jun 7, 2025

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
08:22

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

8.6K

光学基因组映射 (OGM) 识别了非典型的费兰-麦克德米德综合征病例中的多种结构变异

Erica L Macke1, Anthony R Miller1, Caitlyn M Colwell1

  • 1The Steve and Cindy Rasmussen Institute for Genomic Medicine, The Abigail Wexner Research Institute at Nationwide Children's Hospital, Columbus, Ohio, USA.

American journal of medical genetics. Part A
|November 13, 2024
PubMed
概括

这项研究详细介绍了一名患有Phelan-McDermid综合征的新生儿,其特征是低血压,大脑,囊和严重呼吸衰竭. 综合基因测试揭示了复杂的染色体重组,扩大了这种遗传性疾病的已知表型.

关键词:
菲兰 - 麦克德米德综合征长时间阅读 序列化 序列化通过光学基因组映射进行基因组映射.快速的基因组测序可以实现.

更多相关视频

Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants09:16

Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants

Published on: February 21, 2015

19.5K
Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA11:35

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA

Published on: August 21, 2016

12.9K

相关概念视频

Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
17.3K
Karyotyping01:17

Karyotyping

Overview
58.2K
Pleiotropy01:33

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,...
39.9K