Fahri Küçükali
@maegsul
Followers
948
Following
17K
Media
1K
Statuses
20K
Postdoc at @SleegersLab @CMN_VIB working on complex genetics of Alzheimer's. | GWAS, molQTLs, TWAS, splicing, long reads, rare variants. https://t.co/pO7ClZPMdI🦋
Antwerp, Belgium
Joined April 2010
You can also find me on Bluesky! 🦋 https://t.co/AWcWlqmyDZ
If you are interested to see more from the Sleegers Lab, please check out our account on Bluesky ( https://t.co/SQWnGExlb4):
https://t.co/EfqYZkfFIo. This Twitter account will no longer be active. See you there! 🦋
0
1
3
Deciphering distinct genetic risk factors for FTLD-TDP pathological subtypes via whole-genome sequencing https://t.co/SKh1SHwW5r
nature.com
Nature Communications - Here the authors identify TNIP1 as a risk factor for a fatal neurodegenerative disorder and discover specific genetic loci associated with the three main subtypes of this...
0
4
4
Thrilled to share that our work is now published in @GenomeMedicine! I hope this can serve as a key resource for studying genomic structural variation in #Alzheimers and other neurodegenerative diseases. Check it out:
genomemedicine.biomedcentral.com
Background Alzheimer’s disease (AD) is a complex neurodegenerative disorder with substantial genetic influence. While genome-wide association studies (GWAS) have identified numerous risk loci for...
Happy to share new results of SV association scans covering 20+ age-related clinical and neuropathologic traits! Suggestive findings in known AD GWAS loci and potential novel loci. https://t.co/J42TrS4fE9 Full summary stats available on GitHub! #medRxiv #rushalzheimers #genetics
2
4
8
Ecstatic to see our paper "Long-read RNA sequencing atlas of human microglia isoforms elucidates disease-associated genetic regulation of splicing" now published in @NatureGenet with @towfiqueRaj @panos_roussos @SinaiBrain
nature.com
Nature Genetics - This isoform-centric microglia genomic atlas includes 35,879 novel human microglia isoforms identified by long-read RNA sequencing. A multi-ancestry quantitative trait locus...
13
34
135
Last PhD paper is out, impact of miRNA genetic variants on neurodegenerative brain diseases! :) https://t.co/kAWoaolAIY
New Research: Investigation of the role of miRNA variants in neurodegenerative brain diseases https://t.co/4ZNOdwxOR0
#FrontiersIn #Genetics
0
1
2
📣Excited to share my last postdoc paper with @soumya_boston on eQTL mechanisms depending on where the RNA is in the cell! @BrighamResearch @broadinstitute TL;DR:Early RNA eQTL variants in the nucleus and late RNA eQTL variants in the cytosol have distinct molecular mechanism🧵👇
Early and late RNA eQTL are driven by different genetic mechanisms https://t.co/vGkfN3dWej
#biorxiv_genomic
4
41
174
Excited to share the pre-print on my PhD work demonstrating a role for syntaxin-6 in prion and tau pathogenesis. After 3 yrs of hard work, I am glad it is finally out and would like to thank my mentors and colleagues at the MRC Prion Unit for all their support @smead2 @MRC_Prion
https://t.co/UwNMvivz3F I'm really pleased to share this preprint comprising the bulk of Lizzie Hill's work for PhD on the role of STX6 in prion and tau neurodegenerative diseases @MRC_Prion @lizziehill35 Short thread 1/n
1
6
26
https://t.co/UwNMvivz3F I'm really pleased to share this preprint comprising the bulk of Lizzie Hill's work for PhD on the role of STX6 in prion and tau neurodegenerative diseases @MRC_Prion @lizziehill35 Short thread 1/n
biorxiv.org
Syntaxin-6, a SNARE protein involved in intracellular protein trafficking, is a proposed risk factor for sporadic prion disease, progressive supranuclear palsy and Alzheimer’s disease. However, no...
2
9
27
Happy to see our preprint on Creutzfeldt-Jakob Disease GWAS gene prioritization is now published in Brain! Check it out here: https://t.co/Fj9bcVJ9P9
Happy to see our preprint online! Have a look at it if you are interested in integrative multiomic analyses to nominate prioritized Creutzfeldt-Jakob Disease risk genes and mechanisms 🧬 https://t.co/FaFsdAolEI
0
0
15
Küçükali & Hill et al. integrate GWAS data with transcriptome and proteome-wide association studies to better understand risk factors for sporadic Creutzfeldt-Jakob disease, the most common human prion disease. https://t.co/6lEiBG6Nbz
1
12
46
Multiomic analyses direct hypotheses for Creutzfeldt-Jakob disease risk genes. Work with @lizziehill35 @maegsul @SleegersLab to refine evidence for prion disease risk genes STX6, GAL3ST1. Adding MANF and PDIA4 for follow up work. Now published in Brain.
academic.oup.com
Küçükali & Hill et al. integrate GWAS data with transcriptome and proteome-wide association studies to better understand risk factors for sporadic Creu
0
2
7
Multiomic analyses direct hypotheses for Creutzfeldt-Jakob disease risk genes
academic.oup.com
Küçükali & Hill et al. integrate GWAS data with transcriptome and proteome-wide association studies to better understand risk factors for sporadic Creu
1
12
52
New online! The impact of rare genetic variants on Alzheimer disease https://t.co/16CJLCfZiV
1
15
45
🚨 New Review Alert! 🚨 Excited to share our latest in Nature Reviews Neurology! 🧠✨ We explore the impact of rare genetic risk variants on Alzheimer's disease, shedding light on key insights from recent studies. Thank you for this opportunity! #Alzheimers #variants #Review
0
2
5
We have beautifully showcased how important (good), collaboration is in order to move boandaries of what is possible :). If interested - check it out https://t.co/pPpor3TQ7E
@nanopore @VIBLifeSciences @UAntwerpen
blog.vib.be
Discover scywalker, VIB's groundbreaking workflow for long-read single-cell transcriptome sequencing. Uncover new isoforms, streamline massive datasets, and explore diverse applications from neuros...
0
2
6
Our mentor Casey Brown, apart from being an extraordinary scientist, was a brilliant teacher who loved everything genetics. In his honor, some of the world's leading experts came together to create the 'Casey Brown Lecture Series' on human genetics 1/
1
27
75
Do you want to start a PhD and study the transmission of the microbiome and alterations in neurological disorders? 🦠🖥️ We have a fully-funded position (deadline: 05/01/25)! All details: https://t.co/AHruXpiOIq Feel free to get in touch for more info!
5
45
117
Did you get your PhD in 2023 or 2024? With a background in bioinformatics and interested in understanding the social transmission of our microbiomes? 🦠👨👩👧👦🖥️ We can apply together for a Juan de la Cierva postdoctoral fellowship (internal deadline: 5/01/2025)
‼️ La @AgEInves destina 189,4 millones de euros para varias convocatorias de ayudas del año 2024 del Programa Estatal de Recursos Humanos: 🔹 Torres Quevedo: 20.100.000 € 🔹 Juan de la Cierva: 38.300.000 € 🔹 Ramón y Cajal: 131.056.800 €. + Info ➡️ https://t.co/VIxjilHwfr
0
8
16
1/ 🧵 So excited to finally share our preprint! Long-read sequencing of hundreds of diverse brains provides insight into the impact of structural variation (SV) on gene expression and DNA methylation- A new genomic resource for brain research! 🧠✨ https://t.co/vYcbGIJWXU
biorxiv.org
Structural variants (SVs) drive gene expression in the human brain and are causative of many neurological conditions. However, most existing genetic studies have been based on short-read sequencing...
2
45
115
🧠 New insights into the genetic factors that drive Alzheimer’s disease 👉 Read here: https://t.co/2xMrV2ubZX 🔬 Study led by Prof. Kristel Sleegers of VIB-UAntwerp Center for Molecular Neurology @UAntwerpen @_BrightFocus @alzassociation
0
4
7