Repeat expansion detected by @cwlaflamme.bsky.social through methylation, long-read and population data. (@hcmefford.bsky.social lab research, gene name hidden ->unpublished study)
#eshg2025 @eshg.bsky.social #epilepsy #raredisease
26.05.2025 09:50 β π 4 π 2 π¬ 0 π 1
And this is a huge win after my F31 application went from discussed to not discussed after resubmission. I want to highlight the βnoβsβ that lead up to this βyesβ as well!
18.12.2024 17:25 β π 0 π 0 π¬ 0 π 0
Excited to announce that my F99/K00 fellowship entitled, βA multi-omics approach to understanding pediatric epilepsies,β was officially funded today!
And a huge thank you to @hcmefford.bsky.social for being the greatest mentor ever and always supporting me in these endeavors π§¬π§ Cheers!
18.12.2024 17:04 β π 10 π 2 π¬ 0 π 2
P.S. I do hope I get to go back again!
17.12.2024 16:14 β π 2 π 0 π¬ 0 π 0
I want to extend a huge thank you to the @nickywhiffin.bsky.social lab for having me this past month to work on various projects using the @GenomicsEngland data. I learned a ton during my time @ox.ac.uk and continue to drink tea at least 3 times per day. Cheers!
17.12.2024 16:12 β π 10 π 1 π¬ 1 π 2
PhD student @gagneurlab.bsky.social (TU Munich).
Interested in rare variant genetics.
https://shubhankarlondhe.github.io/
Max Planck School of Cognition PhD candidate
MPI for Psycholinguistics, Language & Genetics
PhDing in musicality, aesthetics and behavioural genetics
Typos are my owl
Associate Prof in health data science @HiLIFE_helsinki @FIMM_UH - MGH/Harvard - Playing with all kind of data - http://dsgelab.org
Statistical Geneticist, Group leader at University of Lausanne/Unisante, father, climber, runner
Professor at KTH, NY Genome Center, SciLifeLab, working on functional genomics and human genetics.
MD-PhD candidate at the University of Sydney & Garvan Institute.
Studying tandem repeats in single-cell contexts w/ @dgmacarthur.bsky.social
Genomics and Computational Biology PhD student at UPenn π§¬
Computer Science PhD Student at @humboldtuni.bsky.social and @mdc-berlin.bsky.social | Data Science | Machine learning | AI | Bioinformatics | Genomics | Single-Cell Biology
Our group develops and applies computational approaches to study molecular variations and their phenotypic consequence. We are part of DKFZ and EMBL.
Website: https://steglelab.org/
PhD Student in Computational Biology at TU Munich (Gagneur lab) and Helmholtz Munich (Theis lab)
Interested in rare variants and their effect in Population-scale cohorts
PhD candidate in ML for genomics in Heidelberg, Germany with Oli Stegle
Previously at Genentech, UBC and BITS Pilani
https://scholar.google.com/citations?user=4yUtALcAAAAJ&hl=en&oi=ao
Postdoc @TCD | genetic epidemiology | genomics & environment π§¬βοΈ
Geneticist, product manager & photographer #humangenetics #moleculardx #womenshealth #socialmedia. Opinions stated are my own. https://www.linkedin.com/in/agnieszkacaruso/
Clinical Geneticist, VCGS. Professor, University of Melbourne. Rare disease genomics. π§¬π¦πΊ
Computational biologist. Genetics of Rare Diseases, Essential Genes, Statistics, R.
Honesty matters.
PI of the Functional Genomics lab (https://fungenlab-ugent.be/) at Ghent University.
Elucidating the genetics of neurodevelopmental disorders.
Special interest in the role of the non-coding genome during neurodevelopment.