VariantValidator
@VariantValidatr
Accurate validation, mapping and formatting of sequence variant descriptions
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New workflows. Genes2Transcripts can now be filtered. For example, type "mane" to show all MANE Select and Mane Plus Clinical; type mane_select to show Mane Select only; type select to show all canonical transcripts for a gene
New genomic variant processing pipeline introduced. We have changed our workflows to speed up processing of genomic variants. By default, VV now only returns latest versions of each transcript. To return all versions, set the select_transcripts field in web forms / API to raw
VariantValidator set to become an ELIXIR Service. Find out more at tinyurl.com/bd8c2w2p
blogs.bmh.manchester.ac.uk/blog/2022/11/2…{EmailSubjectLine}&utm_content=48420&gator_td=Zs8AEQlIq42fNoxja0tZ3vnW9jAh58zB42r1EajaZatJ9eGhYVsNWZdJJ2JTFiaOG3bJcZh8ArFsY27ORNxkLDmPuKhqdDVKMvNWMKCaqsiRxCngeCjCvy3uTM2FCa%2fa1WHtNAqsqFBLfMyyR9F1psUcII0vGX8OkqEjHHOpy%2f8%3d
We are trialing a new discussion forum for Variant Description queries, VariantValidator issues and feature requests. Why not be one of the first to post? Join the chat room on Gitter for variantValidatorDiscuss/community: gitter.im/variantValidat… via @gitchat
I'm delighted to have been made the patient editor and a section editor at Genetics in Medicine. journals.elsevier.com/genetics-in-me…. More information in my research profile research.manchester.ac.uk/portal/peter.c…
We have now released VariantValidator 2.1.0. This major release comes with a major database update (now supporting hg19 mito genome as well as GRCh37 mito) and upgraded websites. Checkout select_transcripts for genomic variants on variantvalidator.org.
We are making an impact. Thanks to all our users who have helped us build software that makes a real difference. Keep telling us what you need and it will be built. variantvalidator.org/help/contact/
Shoot the messenger! Gmail accounts haven't been receiving batch results. Gmail have added new spam-filtering actions, so gmail users should visit contacts.google.com and create a contact for us. Our email address for the contact is included in your batch submission email
Thomas G Restell just supported @VariantValidatr on @buymeacoffee! 🎉 @VariantValidatr is FOS software supporting the genomics research and healthcare community. You can support by buying a coffee ☕️ here — buymeacoffee.com/VariantValidat…
Carolyn Jones just supported @VariantValidatr on @buymeacoffee! 🎉 @VariantValidatr is FOS software supporting the genomics research and healthcare community. You can support by buying a coffee ☕️ here — buymeacoffee.com/VariantValidat…
Proudly supporting Syndromes Without A Name (SWAN) UK
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