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Genetic Lingo

Genetic Lingo

Pedigree Analysis

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Genome-wide Association Studies-GWAS

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...

Incomplete Dominance

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.

Polygenic Traits

Polygenic Traits

When more than one gene is responsible for a given phenotype, the trait is considered polygenic. Human height is a polygenic trait. Studies have uncovered hundreds of loci that influence height, and there are believed to be many more. Due to the high number of genes involved, as well as environmental and nutritional factors, height varies significantly within a given population. The distribution of height forms a bell-shaped curve, with relatively few individuals in the population at the...

Polygenic Traits

Polygenic Traits

When more than one gene is responsible for a given phenotype, the trait is considered polygenic. Human height is a polygenic trait. Studies have uncovered hundreds of loci that influence height, and there are believed to be many more. Due to the high number of genes involved, as well as environmental and nutritional factors, height varies significantly within a given population. The distribution of height forms a bell-shaped curve, with relatively few individuals in the population at the...

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Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

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[Complex diseases genetics].

Emilio Gómez de la Concha

Anales De La Real Academia Nacional De Medicina

|May 4, 2010

Summary

Genetic variations, though small, influence disease susceptibility and treatment response. Advances in genomics enable personalized medicine by identifying these genetic links.

Area of Science:

Genomics and Personalized Medicine

Background:

Common diseases have a genetic component, evidenced by familial clustering, despite not following Mendelian inheritance patterns.
Individual genomic differences, less than 0.1%, significantly impact disease susceptibility, prognosis, and therapeutic responses.

Discussion:

The human genome contains millions of variations, including single nucleotide polymorphisms (SNPs), insertions, deletions, and rearrangements.
Major international projects like the Human Genome Project and HapMap Project have facilitated the study of these genomic variations.
Technological progress allows simultaneous analysis of millions of SNPs, with whole-genome sequencing becoming increasingly rapid.

Key Insights:

Genomic variations are crucial for understanding individual differences in disease risk and treatment efficacy.
Discoveries are being made regarding genetic variations linked to disease susceptibility.

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New therapeutic targets are being identified through genomic research.

Outlook:

Rapid advancements in sequencing technology are accelerating genomic discoveries.
The field is moving towards personalized medicine, tailoring treatments based on individual genetic profiles.