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Updated: May 26, 2025

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

Published on: June 15, 2011

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基于第三代测序的CASMA-trio和STR链接分析对识别SMN1 2 + 0载体的比较研究

Jianchun He1,2,3,4, Wenzhi He1,2,3,4, Jiajia Xian1,2,3,4

  • 1Department of Obstetrics and Gynecology, Experimental Department of Obstetrics and Gynecology Institute, The Third Affiliated Hospital of Guangzhou Medical University, Guangzhou, 510150, Guangdong, China.

Scientific reports
|February 21, 2025
PubMed
概括

现在可以使用SMA三组综合分析 (CASMA-trio) 准确识别带有SMN1 2+0基因型的脊柱肌缩 (SMA) 载体. 这种方法为SMA载体查提供了更广泛的应用前景.

关键词:
SMN1 2 + 0 运输公司对STR链接分析的分析.脊柱肌肉缩 脊柱肌肉缩 脊柱肌肉缩第三代测序系统是第三代测序系统.

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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease09:34

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

Published on: April 4, 2018

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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

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相关概念视频

Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
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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%...
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