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LSDBs and How They Have Evolved.

Raymond Dalgleish¹

¹Department of Genetics, University of Leicester, Leicester, United Kingdom.

|February 27, 2016

Summary

This summary is machine-generated.

Locus-specific databases (LSDBs) are crucial for understanding human disorders and drug reactions, evolving from manual cataloging to sophisticated web-based resources. Continued development will enhance data accuracy and clinical utility.

Keywords:

LSDB data-quality assurance database mutation reference sequence sequence variant software variant nomenclature

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Area of Science:

Genomics and Bioinformatics
Human Genetics and Disease Research
Pharmacogenomics

Background:

Locus-specific databases (LSDBs) have evolved over 50 years, originating from manual data cataloging.
The analysis of sequence variation in globin genes laid the foundation for modern LSDBs.
LSDBs are increasingly vital in clinical practice for understanding genetic disorders and drug responses.

Purpose of the Study:

To review the historical development and current state of Locus-Specific Databases (LSDBs).
To highlight the role of software, the World Wide Web, and reporting standards in LSDB evolution.
To discuss the ongoing efforts in refining variant reporting and data quality assurance in LSDBs.

Main Methods:

Historical analysis of the evolution of data cataloging and software development in genetics.
Review of the impact of the World Wide Web on the accessibility and growth of LSDBs.
Examination of the development of reporting standards and reference sequences for genetic variants.

Main Results:

LSDBs have grown significantly over 25 years, driven by technological advancements and standardized reporting.
They now cover numerous human protein-coding genes and are essential tools in clinical settings.
Current efforts focus on refining nomenclature and ensuring data completeness, correctness, and consistency.

Conclusions:

LSDBs are indispensable resources for understanding human genetic variation and its implications for health.
The evolution of LSDBs reflects advancements in bioinformatics, web technologies, and data standardization.
Future developments are expected to further enhance the utility and reliability of LSDBs in research and clinical practice.