LOVD 3.0 News

LOVD 3.0 build 29 released Ivo Fokkema, 2023-02-23
Today, LOVD 3.0 build 29 has been released.
New features implemented, amongst others: Added an visual HGVS syntax checker tool. This is an online form that takes a variant and finds out whether it seems to be described following the HGVS nomenclature. The form accepts either a single variant input, or a batch variant input, where a list of variants can be pasted into the input form. In both cases, it checks the variants' syntax and suggests a correction when possible. It also allows to validate variants using the VariantValidator service. When generating a suggested fix ourselves, we express our level of confidence that this correction is indeed as intended, in the text of the suggestion. The interface allows downloading the results to a text file so that the user can store the result of the analysis. You can find this tool in the scripts folder. Also, we upgraded the javascript libraries, improved how numeric values and selection lists are validated, and changed the default value for the "chromosome" field from "1" to empty.
Bugs fixed, amongst others: Fixed some URL parsing issues; Several fixes in and improvements to the VariantValidator library; Fixed issue with the LOVD2-style API not fully working; Fixed the connection to Mutalyzer, since they changed their URL, breaking all interactions with their services; Fixed several issues with running LOVD on PHP8.1; Updated the links to dbSNP since they changed their URLs; Added several fixes to the position fixing script.
Closes #526, #575 and #618.

See the changelog.
Download the new build.
LOVD scripts included: LOVD2 file converter 3.0-29, Reading Frame Checker 3.0-28, RefSeqParser 3.0-29, Variant position fixer 3.0-29, Variant Validation 3.0-29.
Manual version included: June 15th, 2021.

News older than 12 months can be found in the archive.

Last modified 2023/02/23 12:16:52 CET

When using or discussing LOVD please refer to:
Fokkema IF, Kroon M, López Hernández JA, Asscheman D, Lugtenburg I, Hoogenboom J, den Dunnen JT. The LOVD3 platform: efficient genome-wide sharing of genetic variants. Eur J Hum Genet (2021). https://doi.org/10.1038/s41431-021-00959-x.

A recommended system of the Human Variome Project LOVD has received funding from the European Community's Seventh Framework Programme
(FP7/2007-2013) under grant agreement nº 200754 - the GEN2PHEN project.
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Ivo F.A.C. Fokkema BSc., Prof. Johan T. den Dunnen PhD
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