Related Experiment Video
Updated: May 1, 2026
14:06
Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER
Published on: June 23, 2012
16.5K
PARSESNP: A tool for the analysis of nucleotide polymorphisms
Nicholas E Taylor1, Elizabeth A Greene
1Fred Hutchinson Cancer Research Center, 1100 Fairview Avenue North, Seattle, WA 98109, USA.
Nucleic Acids Research
|June 26, 2003
Summary
PARSESNP analyzes gene polymorphisms by comparing DNA sequences to predict effects on proteins and restriction sites. This tool aids in understanding genetic variations and their functional impacts.
Area of Science:
- Genetics
- Bioinformatics
- Molecular Biology
Background:
- Genetic polymorphisms can alter gene function and protein structure.
- Analyzing these variations is crucial for understanding genetic diseases and evolution.
- Existing tools may lack comprehensive analysis of polymorphism effects.
Purpose of the Study:
- To introduce PARSESNP, a web-based tool for analyzing gene polymorphisms.
- To provide detailed insights into the functional consequences of DNA variations.
- To predict the impact of polymorphisms on protein sequences and restriction enzyme sites.
Main Methods:
- Utilizes reference DNA sequences and exon/intron models.
- Identifies and maps polymorphisms within gene sequences.
- Compares DNA and protein sequences, incorporating homology modeling.
- Analyzes changes in restriction enzyme recognition sites.
Main Results:
- PARSESNP displays polymorphism locations and effects graphically and via sequence alignment.
- Predicts the impact of polymorphisms on the expressed gene product.
- Identifies alterations in restriction enzyme recognition sites.
- Assesses the severity of missense mutations using protein homology.
Conclusions:
- PARSESNP offers a comprehensive approach to polymorphism analysis.
- The tool facilitates the study of genetic variation effects on gene products.
- Provides valuable predictions for genetic research and drug discovery.
Related Concept Videos
02:26Comparing Copy Number Variations and SNPs
11.6K
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%...
11.6K
01:05Single Nucleotide Polymorphisms-SNPs
14.6K
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,...
14.6K
01:29Modern Molecular Taxonomy
836
Advancements in molecular biology have revolutionized the identification and characterization of bacteria, with multiple methods leveraging DNA sequencing for enhanced precision. As sequencing technologies improve and costs decline, these approaches are increasingly used in clinical, environmental, and evolutionary studies.Multilocus Sequence Typing (MLST) examines several housekeeping genes, essential chromosomal genes encoding cellular functions, to distinguish strains. Approximately...
836