相关实验视频

Updated: May 31, 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

25.8K

对18,994名涉嫌罕见门德尔病患者的种族多样性患者的外体序列测序

Heonjong Han1, Go Hun Seo2, Seong-In Hyun1,3

  • 13billion, Inc., Seoul, South Korea.

NPJ genomic medicine
|January 22, 2025
PubMed
概括

外体测序 (ES) 诊断出 31.8% 的不同患者罕见遗传疾病. 诸如特定疾病类别和家长数据等因素改善了诊断产量,显示了跨种族的ES有效性.

更多相关视频

Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER14:06

Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER

Published on: June 23, 2012

15.2K
Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information09:37

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on: August 15, 2019

9.6K

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...
12.4K