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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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Related Experiment Video

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Comprehensive Workflow for the Genome-wide Identification and Expression Meta-analysis of the ATL E3 Ubiquitin Ligase Gene Family in Grapevine

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Genomic Sequence Variation Markup Language (GSVML).

Jun Nakaya¹, Michio Kimura, Kaei Hiroi

¹Information Center for Medical Sciences, Tokyo Medical and Dental University, Bunkyo, Tokyo, Japan. junnaka.cgi@tmd.ac.jp

International Journal of Medical Informatics

|December 9, 2009

Summary

This summary is machine-generated.

Genomic Sequence Variation Markup Language (GSVML) is a new format for sharing genomic variation data in human health applications. Its international standardization is underway to improve data utilization in clinical and research settings.

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Area of Science:

Genomics
Bioinformatics
Computational Biology

Background:

Genomic sequence variation data is rapidly increasing due to extensive genomic research.
There is a need for an interoperable data exchange format and international standardization for genomic variation data.
Human health applications like gene-based medicine and pharmacogenomics require specialized data handling.

Purpose of the Study:

To develop an interoperable data exchange format, Genomic Sequence Variation Markup Language (GSVML), for genomic sequence variation data.
To focus GSVML on human health applications and ensure its practicability and data coverage.
To facilitate communication and interface ability with other Markup Languages and clinical standards.

Main Methods:

GSVML was developed through an eight-step process involving case analysis and domain investigations.
Design scope was focused on human health applications and genomic sequence variation to ensure clarity and practicality.
Database and existing Markup Language investigations were conducted to minimize redundancy and maximize data coverage, while analyzing interface ability with clinical standards.

Main Results:

A human health-oriented GSVML was developed, including required variation data and optional direct/indirect annotation categories.
Annotation categories incorporate omics and clinical information with internal relationships.
Investigations included analysis of 6 human health application cases, 15 data elements, 5 SNP databases, 6 Markup Languages, and the Health Level Seven Genotype Model.

Conclusions:

GSVML is a developed data exchange format for genomic sequence variation, specifically for human health applications.
International standardization of GSVML is necessary and in progress.
GSVML can enhance the global utilization of genomic variation data by bridging clinical and research applications.