Literature DB >> 26919551

LSDBs and How They Have Evolved.

Raymond Dalgleish1.   

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 toward minor tidying up of the variant reporting nomenclature and processes for assuring the completeness, correctness, and consistency of the data. The next 25 years will doubtless witness further developments in the evolution of LSDBs.
© 2016 WILEY PERIODICALS, INC.

Entities:  

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

Mesh:

Year:  2016        PMID: 26919551     DOI: 10.1002/humu.22979

Source DB:  PubMed          Journal:  Hum Mutat        ISSN: 1059-7794            Impact factor:   4.878


  3 in total

1.  Implementing the VMC Specification to Reduce Ambiguity in Genomic Variant Representation.

Authors:  Michael Watkins; Shawn Rynearson; Alex Henrie; Karen Eilbeck
Journal:  AMIA Annu Symp Proc       Date:  2020-03-04

2.  ABCMdb reloaded: updates on mutations in ATP binding cassette proteins.

Authors:  Hedvig Tordai; Kristóf Jakab; Gergely Gyimesi; Kinga András; Anna Brózik; Balázs Sarkadi; Tamás Hegedus
Journal:  Database (Oxford)       Date:  2017-01-01       Impact factor: 3.451

Review 3.  Landscape of TP53 Alterations in Chronic Lymphocytic Leukemia via Data Mining Mutation Databases.

Authors:  Thierry Soussi; Panagiotis Baliakas
Journal:  Front Oncol       Date:  2022-02-16       Impact factor: 6.244

  3 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.