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Genetic Variation

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Genetic variation is the diversity in DNA sequences found among individuals of the same species. This diversity is crucial for a species' survival because it helps organisms adapt to environmental changes. Genetic variation begins with fertilization, where an egg and sperm cell merge. Each of these cells carries 23 chromosomes, up to 46 in the fertilized egg. Chromosomes are long DNA strands that contain genes, the basic units of heredity.
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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.
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Single Nucleotide Polymorphisms-SNPs

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Detecting Somatic Genetic Alterations in Tumor Specimens by Exon Capture and Massively Parallel Sequencing

Detecting Somatic Genetic Alterations in Tumor Specimens by Exon Capture and Massively Parallel Sequencing

Published on: October 18, 2013

Extensive genetic variation in somatic human tissues.

Maeve O'Huallachain¹, Konrad J Karczewski, Sherman M Weissman

¹Department of Genetics, Biomedical Informatics Training Program, Stanford University School of Medicine, Stanford, CA 94305, USA.

Proceedings of the National Academy of Sciences of the United States of America

|October 9, 2012

Summary

This summary is machine-generated.

Genetic differences exist between tissues within the same person, challenging the assumption of uniform genomic content. This somatic genomic variation impacts gene function and has implications for disease and research.

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Area of Science:

Human genetics
Somatic variation
Genomic instability

Background:

Traditionally, genomic content is assumed uniform across healthy tissues within an individual.
Exceptions are known in the immune and germline systems, but inter-tissue variation is less understood.
Emerging evidence suggests genomic differences exist between differentiated tissues.

Purpose of the Study:

To investigate the extent of somatic genomic variation between different human tissues.
To identify the frequency and nature of intraindividual genomic changes.
To assess the impact of these variations on genes.

Main Methods:

High-resolution array-comparative genomic hybridization (aCGH) was used.
Diverse tissues from six unrelated human subjects were analyzed.
Copy number variation (CNV) analysis was performed to detect genomic alterations.

Main Results:

A significant number of intraindividual genomic changes were detected between tissues.
Approximately 79% of these genomic events affected genes.
Substantial somatic genomic variation exists within individuals across different tissues.

Conclusions:

Somatic genomic variation between tissues is a widespread phenomenon in humans.
These inter-tissue genetic differences have implications for understanding normal variation and disease.
Findings impact research using immortalized cell lines and understanding genetic disease etiology, including cancer.