Read an interesting #OA article in our July issue that discusses Disease causing cis variants in Transcription factor genes by @WyWyWa@robinvdlee@CorreardSolenne
https://t.co/qa8Ta6s55a
During my PhD, I studied a non coding variant implicated in a rare disease without interpretation guidelines directly relevant for such variants.
To address that, we introduce an evidence framework specific to regulatory variants.
w/ @robinvdlee@WyWyWa
https://t.co/qwptFsUijF
Our latest work on regulatory variants in disease out now @TrendsGenetics:
• Literature compilation+analysis of 46 variants for 40 TF genes
• Framework for assessing evidence of variant pathogenicity+molecular impact
w/ @CorreardSolenne@WyWyWa
https://t.co/EVNFbtqpYw
For the amazing @silentgenomes project, we need a post-doc with an interest in equitable access to genome medicine. Creating resources in partnership with Canada's Indigenous communities that positively impact clinical genetics and empower choice.
https://t.co/cQKlgDd3eB
We're happy to announce the 8th release, JASPAR 2020!! with 100s of new/updated PFMs & also a new community curation initiative 🎉 https://t.co/hPYfESvmPn
Data is available through:⬇️
Download: https://t.co/nhHcJTKm5I
REST API: https://t.co/aTv536Geq1 & R/Bioconductor package
What did you do on your summer vacation? Robin van der Lee, postdoctoral fellow @BCChildrensHosp, volunteered @GenomeBC’s Geneskool. Read how he had the opportunity to explore northern BC while connecting with students in remote communities about science: https://t.co/pEaCr3D0Gq
Happy 20th Birthday to the Wasserman Lab! On 15 March 1999 the lab (consisting of me and an empty room) was established at the @karolinskainst in Stockholm. After 20 years and a move to @UBC / @BCCHresearch / @CMMT_UBC >100 past and present members have joined in the effort. 1/2
Trots! Want 6 van onze onderzoekers krijgen een Rubicon-beurs (er werden er 21 uitgedeeld ;-)) Gefeliciteerd Silvy Collin, Tijs Karman, Robin van der Lee, Marianne Oldehinkel, Erik de Water en Albert Wong!
https://t.co/TYlUkzcT0V
Proud to announce that the Netherlands Organization for Scientific Research (@NWONieuws, @ZonMw) has awarded me a #Rubicon grant! With its support I will continue my studies into regulatory alterations in cancer patient genomes @CMMT_UBC@UBC in #Vancouver.https://t.co/gAIDqmEzAm
New resource for malaria research from my old lab! "Probabilistic data integration identifies reliable gametocyte-specific proteins and transcripts in malaria parasites." https://t.co/jDAwvgYDQ2
@DeiElurbe, @svheeringen et al. on how vertebrate genomes reorganize (inc. loss of genes and regulatory elements) after genome duplication! https://t.co/S5ff3JPdbc