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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
A gentle introduction to SNP analysis: resources and tools
1Data Mining Department, Institute for Infocomm Research, 21 Heng Mui Keng Terrace, Singapore 119613, Singapore. tlmah@i2r.a-star.edu.sg
Journal of Bioinformatics and Computational Biology
|October 13, 2007
Summary
Bioinformatics tools analyze complex disease data by linking genes and single nucleotide polymorphisms (SNPs). This review highlights software for predicting protein structure and function impacts, aiding genetic research.
Area of Science:
- Bioinformatics
- Genomics
- Molecular Biology
Background:
- The rapid expansion of genomic data necessitates advanced bioinformatics tools.
- Powerful computing enables novel methods for integrating biological and clinical data.
Purpose of the Study:
- To review software methods for analyzing single nucleotide polymorphisms (SNPs) in relation to complex diseases.
- To emphasize predictions of protein structure and function alterations caused by SNPs.
Main Methods:
- Review of current bioinformatics software for SNP analysis.
- Focus on methods predicting functional and structural protein changes.
Main Results:
- Software exists to analyze SNPs and their potential effects on protein structure and function.
- These tools can correlate genetic variations with complex diseases.
Conclusions:
- Further development of comprehensive bioinformatics tools is crucial for genomics research.
- Advanced tools are needed to manage and interpret vast amounts of genomic data effectively.
Related Concept Videos
01:05Single Nucleotide Polymorphisms-SNPs
A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
02:26Comparing Copy Number Variations and SNPs
Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
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%...
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%...
01:11Genome-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...
GWAS does not require the identification of the target gene involved in...