New publication underlines the variability in phenotype of patients with CLN7 disease: onlinelibrary.wiley.com/share/WSQAYWRF… The patients in this paper are included in UCL's NCL database, which you can access here: ucl.ac.uk/ncl-disease/mu…
1/ Are you working with human variation data? 🧑🤝🧑Are you interested in phenotypes and disease? Here's how you can find the clinical significance of variants using #Ensembl. A thread...🧵 #genomics #bioinformatics #tweetorial #Ensembltraining 🧬
On #bbcr4 'Mila's Legacy' - the story of a mother's fight to save her daughter bbc.co.uk/programmes/m00… #cln7 #battendisease @stopbatten
#CLN3 tables updated today - apologies that were a number of mistakes on variant locations - in most cases due to confusion of GRCh37 and 38 references. Do contact the database through our website if you spot mistakes in any of the tables #battendisease ucl.ac.uk/ncl-disease/mu…
#RareDiseaseDay2024 #battendisease the UCL NCL database has recent updates for patients and their mutations in CLN1, 2, 3, 6, 7 and 11 ucl.ac.uk/ncl-disease/mu…
ucl.ac.uk
Mutation and Patient Database
This database set up in 1998 contains published mutations and sequence variations in genes that cause NCL together with unpublished data included with permission.
#cln2 mutation table updated - patient table to follow soon - 167 mutations from patients with data validation and summary statistics ucl.ac.uk/ncl-disease/mu…
And that wraps up a great #NCL2023 in Hamburg. Australia and #NCL2025 @NclSteph here we come. The #battendisease bell 🔔 is passed on.
Getting the database ready for #NCL2023 - #CLN3 tables last updated for NCL2021! New version of mutation table published today, patient table still needs some work. Also preparing new summary table of all genes to present on my meeting poster #battendisease
Great new feature! Thank you for highlighting our CLN2 seizure gene therapy paper with @keigotakahashi6 as first author @BDSRA @noahs_hope1
Introducing Research Updates with Dr. Ineka Whiteman, a new feature in The Illuminator newsletter where Ineka provides a featured article, publication summaries, & clinical research updates. Read: ow.ly/ONn050P2win Sign up: ow.ly/SNEv50P2wij #BattenAdvocatesForACure
CLN10 tables just updated. Last updated in April 2017, just after I started in this role. Long time overdue! #battendisease ucl.ac.uk/ncl-disease/mu…
Happy to have completed #CLN5 mutation update. I am finding nomenclature errors in recent papers, probably due to reference sequence update. Table is annotated accordingly. Patient data update is underway... ucl.ac.uk/ncl-disease/mu…
Check your nomenclature before publishing! Checks on published #CLN5 variants show errors probably caused by updated reference sequences. My go-to site is @VariantValidatr for simple batch checking. Also see the NCL database CLN5 diagram ucl.ac.uk/ncl-disease/mu…
The NCL database is pleased to be part of the Mole lab @UCLchildhealth - a quick update of #CLN12 information on the website today - #CLN5 update continuing
#CLN5 updating last few weeks. Reference seq is 50 amino acids shorter than before - to assist both myself and anyone interested in the protein, I have prepared a diagram comparing the two sequences - bit.ly/3ZSU3Hv LMK how useful it is!
Every day is #raredisease day for the UCL NCL database - we maintain records of patients and their mutations for all those with an interest or affected by #Batten disease ucl.ac.uk/ncl-disease/nc… #RareDiseaseDay2023
dbSNP is a great resource for a database curator! I use it just about every working day.
Announcing the dbSNP Build 156 release! This release includes over 900 million ALFA variants and allele frequencies from dbGaP studies. There are also 3.3 billion submitted SNP (ss) records and over 1.1 billion reference SNP (rs) records. Learn more: ow.ly/WGYW50MYvfP
Gene therapy success for rare disease england.nhs.uk/2023/02/first-…
It's been a while, but CLN1 #battendisease information has been updated on the UCL NCL database ucl.ac.uk/ncl-disease/mu…
I was privileged to join fellow UK scientists to speak about our work on #battendisease at the @BattenDiseaseuk meeting on Saturday
Our special awareness tribute song by Poppy is available on all digital platforms. Please like and add the song to your spotify playlist and help us to keep raising as much awareness as possible 🧡 distrokid.com/hyperfollow/po… #battenday2022 #battendisease
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