相关实验视频

Updated: May 25, 2025

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
05:51

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

Published on: June 15, 2011

25.7K

在土耳其人口中通过外体序列测序探索和扩展二次发现

Mehmet Berkay Akcan1, Canan Ceylan Köse2, Kübra Müge Çelik2

  • 1Department of Medical Genetics, İzmir City Hospital, İzmir, Turkey.

Annals of human genetics
|February 26, 2025
PubMed
概括

外基因组测序确定了美国医学遗传学和基因组学学院在7.7%的患者中发现的二次发现. 进一步的分析揭示了可能改善患者护理和临床结果的其他变体.

关键词:
在ACMG中,ACMG就是ACMG.癌症 癌症 癌症 癌症 癌症心血管疾病心血管疾病外基因组测序是指外基因组的测序.二次性发现二次性发现

更多相关视频

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

33.4K
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

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...
12.3K