Four brave women are opening the 67th Brazilian Congress of Genetics! Looking forward to discussing science among friends. #CBG2022 #braziliangenetics #SBG

Wonderful to see this work published in Nature Neuroscience. Since the preprint, we've worked hard to make this an accessible resource for the #ALS/#MND scientific community in the following ways: 🧵 (1/8)

While you walk around the #genetics poster session, come and stop by P4-006 to talk about networks! #AAIC2023 #ENDALZ #WomenInSTEM

In 2010, the first genome-wide significant locus for frontotemporal lobar degeneration (FTLD) was discovered--an LD block spanning TMEM106B. Now, thirteen years later scientists found the causal variant--a 322 bp 3' UTR deletion. When it comes to structural variants in humans,

Great paper on the genome-wide associations of copy number variations (CNVs) with seizure disorders. If I have to choose one thing that is most fascinating of all human genetic variations, it is CNV. Let’s talk about CNVs. (a long weekend read) Copy number variations are large

Two weeks to the #MLCB2023 deadline, submit 2-page abstracts or 8-page papers at cmt3.research.microsoft.com/MLCB2023/. The latter will be (optionally) published/citable/DOIed via PMLR. Meeting itself is hybrid Nov 30 - Dec 1 University of Washington. More deets at mlcb.github.io. Please RT!

I'm sharing the material of a course in #SystemsBiology I gave recently. It includes slides and 2 hands-on tutorials applying #WGCNA to real RNASeq datasets (thanks ElisaNavarro and Jack Humphrey , for making your datasets publicly available). github.com/RushAlz/Intro_…

The human microglia responsome: a resource to better understand microglia states in health and disease 👉 genetic and transcriptomic data of 398 primary human microglia samples from 67 different human subjects 👉 biorxiv.org/content/10.110… #MiGASti

Our progressive supranuclear palsy GWAS was uploaded to bioRxiv! Provides strongest data ever showing a link between innate immune dysfunction and tau pathology in glia. Congratulations to lead author Kurt Farrell and the whole PSP genetics consortium! biorxiv.org/content/10.110…

Towfique Raj, Panos Roussos and I are very pleased to announce the release of the isoform-centric microglia genetic atlas (isoMiGA), a successor to last year’s MiGA project, now available on medRxiv as a preprint: medrxiv.org/content/10.110…

Excited start of the year with 2 Nature Biotechnology articles out today! 1: Sniffles v2 for SV calling from mosaic to population SV calling nature.com/articles/s4158… 2: TRGT for @Pacbio based TR calling nature.com/articles/s4158… Luis Paulin, PhD Moritz Smolka BCM HGSC Rice Computer Science Oxford Nanopore (1/4)

Thrilled to announce the largest long-read based SV resource on open samples (1kGP) to date. Highlights include a pangenome augmentation pipeline, sequence resolution of 74k insertions, fine-scale SV classification and evidence for recurrent SV formation. Great team effort:

Happy to share our latest work in Acta Neuropathologica ⁦Springer Nature⁩ where we identified widespread transcriptomic alterations in patients with C9orf72 repeat expansions. link.springer.com/article/10.100…

My 3rd ROSMAP meeting already, time is flying! RUSH Alzheimer's Disease Center Ricardo Vialle Iturria-Medina #endalz #bioinfo

#Happy141BKBridge!🎂

Latest preprint from the lab. This work is led by ElisaNavarro (now assistant professor at Complutense) & anastasia. #Parkinson’s disease associated LRRK2-G2019S shows donor-dependent alterations in primary monocytes and in iPSc #microglia.

🎉 Honored to receive an Honorable Mention in the Best Poster Awards at #Xmeeting2024, Brazil's top bioinformatics conference! Big thanks to my supervisor Katia Lopes for the support! 🇧🇷#Bioinformatics #ComputationalBiology

A ministra da Saúde, Nísia Trindade, esteve presente à inauguração do Centro Âncora da Amazônia, do Projeto Genomas SUS, na terça-feira, 9 de julho, durante sua participação na 76ª Reunião Anual da Sociedade Brasileira para o Progresso da Ciência (SBPC), na UFPA.

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. doi.org/10.1101/2024.0… Full summary stats available on GitHub! #medRxiv #rushalzheimers #genetics

Uncovering Plaque-Glia Niches in Human Alzheimer's Disease Brains Using Spatial Transcriptomics biorxiv.org/content/10.110…