相关实验视频

Updated: Jan 6, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

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

Published on: April 4, 2018

34.5K

将一个不确定的STK11生殖系变体重新归类为可能致病的:一家人研究

Lorena Moreno1, Miriam Cuatrecasas2, Elia Grau1

  • 1Gastroenterology Department, Hospital Clinic de Barcelona, Barcelona, Spain.

Familial cancer
|October 7, 2025
PubMed
概括

基因检测发现了一种与遗传性癌症相关的STK11基因变异. 家庭病史和隔离研究将该变种重新归类为可能致病的,从而使Peutz-Jeghers综合征 (PJS) 的个性化监测成为可能.

关键词:
基因载体查对基因载体进行查.遗传咨询 遗传咨询 遗传咨询对疾病的遗传倾向.基因检测是一种基因检测.

更多相关视频

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation07:15

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on: January 16, 2019

11.3K
In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila06:41

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

14.2K

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...
15.2K