Eva D'haene
@eedhaene.bsky.social
730 followers
680 following
22 posts
postdoc @ http://debaerelab.com @ https://fungenlab-ugent.be | 3D genome, gene regulation, structural variation | retina, neurodev, space!
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Reposted by Eva D'haene
Reposted by Eva D'haene
Reposted by Eva D'haene
Daniel Ibrahim
@danielibrahim.bsky.social
· May 27
Conservation of regulatory elements with highly diverged sequences across large evolutionary distances
Nature Genetics - Combining functional genomic data from mouse and chicken with a synteny-based strategy identifies positionally conserved cis-regulatory elements in the absence of direct sequence...
rdcu.be
Reposted by Eva D'haene
Reposted by Eva D'haene
Reposted by Eva D'haene
Eva D'haene
@eedhaene.bsky.social
· May 25
Reposted by Eva D'haene
Nadav Ahituv
@nadavahituv.bsky.social
· May 24
Massively parallel reporter assays and mouse transgenic assays provide correlated and complementary information about neuronal enhancer activity - Nature Communications
MPRAs and in vivo transgenic mouse assays are two potentially complementary ways to assay the impact of noncoding variants. Here, authors find a strong and specific correlation between the assays in n...
www.nature.com
Reposted by Eva D'haene
Reposted by Eva D'haene
Zornitza Stark
@zornitza.bsky.social
· May 23
Scalable automated reanalysis of genomic data in research and clinical rare disease cohorts
Reanalysis of genomic data in rare disease is highly effective in increasing diagnostic yields but remains limited by manual approaches. Automation and optimization for high specificity will be necess...
www.medrxiv.org
Eva D'haene
@eedhaene.bsky.social
· May 22
Reposted by Eva D'haene
Reposted by Eva D'haene
Reposted by Eva D'haene
Selin Jessa
@selinjessa.bsky.social
· May 3
Dissecting regulatory syntax in human development with scalable multiomics and deep learning
Transcription factors (TFs) establish cell identity during development by binding regulatory DNA in a sequence-specific manner, often promoting local chromatin accessibility, and regulating gene expre...
www.biorxiv.org
Reposted by Eva D'haene
Nicky Whiffin
@nickywhiffin.bsky.social
· Apr 11
Saturation genome editing of RNU4-2 reveals distinct dominant and recessive neurodevelopmental disorders
Recently, de novo variants in an 18 nucleotide region in the centre of RNU4-2 were shown to cause ReNU syndrome, a syndromic neurodevelopmental disorder (NDD) that is predicted to affect tens of thous...
www.medrxiv.org
Reposted by Eva D'haene