Related Experiment Video
Updated: Apr 7, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
From an SNP to a Disease: A Comprehensive Statistical Analysis.
1Department of Chemistry and Institute for Computational Engineering and Sciences, University of Texas at Austin, Austin, TX 78712, USA.
Disease mutations can alter protein structure and function. A large-scale analysis of protein mutants reveals insights into the structural effects of disease-associated genetic changes.
Area of Science:
- Molecular biology
- Structural biology
- Genetics
Background:
- Linking genotype to disease phenotype requires understanding molecular mechanisms.
- Protein structure and function are central to this understanding.
- Disease-associated mutations can impact protein behavior.
Purpose of the Study:
- To analyze the structural consequences of disease-associated mutations.
- To investigate the relationship between genotype and protein structure/function at a large scale.
Main Methods:
- Large-scale analysis of sequence and structural data.
- Examination of over 6000 mutants across more than 600 proteins.
Main Results:
- Identification of significant structural effects associated with disease mutations.
- Uncovering patterns in how mutations impact protein structure.
Conclusions:
- Disease mutations can have predictable structural impacts on proteins.
- Structural analysis is crucial for understanding genotype-phenotype links.
More Related Videos
09:34Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
08:27Large-Scale Multi-Omics Genome-Wide Association Studies Mo-GWAS: Guidelines for Sample Preparation and Normalization
Published on: July 27, 2021
Related Concept Videos
Genome-wide Association Studies-GWAS
GWAS does not require the identification of the target gene involved in...
Single Nucleotide Polymorphisms-SNPs
Statistical Software for Data Analysis and Clinical Trials
Comparing Copy Number Variations and SNPs
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%...
Pharmacogenomics: Identification of New Drug Targets
Investigation of Disease Outbreaks