相关实验视频

Updated: Jun 23, 2025

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
07:15

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

Published on: January 16, 2019

11.0K

在未经选择的基于卫生系统的人群中,基因型首次分析揭示了COL4A5变异的可变表型严重性

McKenzie Zellers1, Kaushal Solanki2, Melissa A Kelly3

  • 1Geisinger Commonwealth School of Medicine, Scranton, PA.

medRxiv : the preprint server for health sciences
|June 17, 2024
PubMed
概括

这项研究揭示了未经选择的人群中X链接的阿尔波特综合征 (AS) 现象型的更广泛范围,突出了男性和女性病和其他AS特征的基因型特异性风险.

关键词:
艾尔波特综合征 (Alport综合征) 是一种慢性脏疾病 慢性脏疾病临床流行病学临床流行病学在 ESKD 的意思是 ESKD遗传性脏疾病 遗传性脏疾病患有功能衰竭的人.

更多相关视频

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

9.7K
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

33.7K

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...
13.3K
Genetic Lingo01:11

Genetic Lingo

Overview
102.6K
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,...
40.4K
Pedigree Analysis01:35

Pedigree Analysis

Overview
84.2K
Incomplete Dominance01:43

Incomplete Dominance

Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
22.5K
Multiple Allele Traits01:49

Multiple Allele Traits

The Concept of Multiple Allelism
34.2K