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Title: LSDBs and How they have Evolved.
Authors: Dalgleish, Raymond Walter Miller
First Published: 14-Mar-2016
Publisher: Wiley for Human Genome Variation Society
Citation: Human Mutation, 2016 (Early View)
Abstract: Locus specific databases (LSDBs) make a key contribution to our understanding of heritable and acquired human disorders, disease susceptibility, and adverse drug reactions. As data have accumulated in LSDBs, a greater reliance on their use has arisen in clinical practice. Even though LSDBs have existed in recognizable form for only a quarter of a century, their origin lies in the manual cataloging of data that began around 50 years ago. Analysis and recording of sequence variation in the globin genes, and the proteins which they encode, can confidently be said to be the foundation for what we now refer to as LSDBs. Their growth over the years has primarily been underpinned by software developments and the advent of the World Wide Web. However, it is also important to recognize the evolution of reporting standards and reference sequences, without which accurate and consistent reporting of sequence variants would be impossible. Nowadays, LSDBs exist for many human protein-coding genes and the focus of efforts has moved towards minor tidying up of the variant reporting nomenclature and processes for assuring the completeness, correctness and consistency of the data. The next twenty five years will doubtless witness further developments in the evolution of LSDBs. This article is protected by copyright. All rights reserved.
DOI Link: 10.1002/humu.22979
ISSN: 1059-7794
eISSN: 1098-1004
Version: Post-print
Status: Peer-reviewed
Type: Journal Article
Rights: Copyright © 2016 WILEY PERIODICALS, INC. The file attached to this record is distributed under the Creative Commons “Attribution Non-Commercial No Derivatives” licence, further details of which can be found via the following link:
Description: The file associated with this record is under a 12-month embargo from publication in accordance with the publisher's self-archiving policy. The full text may be available through the publisher links provided above.
Appears in Collections:Published Articles, Dept. of Genetics

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