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Incomplete Dominance

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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.

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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,...

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Updated: Jun 11, 2026

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

Published on: June 15, 2011

SNPs3D: candidate gene and SNP selection for association studies.

Peng Yue¹, Eugene Melamud, John Moult

¹Center for Advanced Research in Biotechnology, University of Maryland Biotechnology Institute, Rockville, MD 20850, USA. yue@umbi.umd.edu

BMC Bioinformatics

|March 23, 2006

Summary

SNPs3D.org integrates disease/gene data to analyze genetic variation's role in disease susceptibility. This resource aids researchers in understanding gene relationships and the impact of single nucleotide polymorphisms (SNPs) on protein function.

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A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

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Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Published on: June 21, 2018

Area of Science:

Genomics
Bioinformatics
Molecular Biology

Background:

Understanding the complex relationship between genetic variation and disease susceptibility requires integrating diverse data types.
A comprehensive web resource and database are needed to consolidate information on disease/gene relationships at the molecular level.

Purpose of the Study:

To introduce SNPs3D.org, a web resource and database for exploring disease-gene relationships.
To provide tools for identifying candidate genes for diseases, analyzing gene-gene interactions, and assessing the impact of single nucleotide polymorphisms (SNPs) on protein function.

Main Methods:

The SNPs3D.org resource comprises three modules: disease candidate gene identification, gene-gene relationship analysis, and non-synonymous SNP impact assessment.
Disease/gene and gene-gene relationships are extracted from literature using text profiling.
SNP/protein function relationships are determined using protein structure/stability principles and sequence conservation.

Main Results:

The resource links genes to diseases and presents gene-gene interactions in an interactive graphical interface.
SNP impact analysis is performed using structural and sequence-based methods.
Each gene entry provides links to expression profiles, pathway context, and other relevant data.

Conclusions:

SNPs3D.org facilitates rapid assimilation of information on gene-pathway-disease interactions.
The integrated approach aids in developing models of complex disease etiology.
The resource supports research into genetic variation and disease susceptibility.