Alan Mejía Maza MSc, PhD 🇵🇪
@alanmej55130600
Studying repeat expansion diseases in human brain at @HarvardMed & @CGM_MGH.Previously @UCLIoN Queen Square,UK #XDP #ALS #NMJ.Opinions are my own.
Thrilled to share my latest work on somatic instability in X-linked Dystonia Parkinsonism. This is part of a large effort in uncover the genetic basis driving somatic instability in repeat expansion diseases biorxiv.org/content/10.110…
We've been developing a small standalone tool for viewing & calculating frequency from modification tags in BAM files. This call is for brave users to test. github.com/warp9seq/minim… written by @sunethsam in C, based on mod tag parsing we did for realfreq doi.org/10.1093/bioinf…
Peptidomic analysis of CSF reveals new biomarker candidates for amyotrophic lateral sclerosis embopress.org/doi/full/10.10…
If you are at #ISMB2025: #BOSC2025 track around 2:30pm ish after @sunethsam's talk , @bonson_wong will present on @nanopore basecalling on @AMD GPUs using slorado [github.com/BonsonW/slorado]
Shared and disease-specific pathways in frontotemporal dementia and Alzheimer’s and Parkinson’s diseases nature.com/articles/s4159…
My first paper using SNP data was really just a description of all the patterns I ran into while cleaning the data: nature.com/articles/ejhg2…
For biological data, if you don't have deep expertise in this low value work called data cleaning, u r lacking a fundamental understanding of the idiosyncrasies of the data. Without this knowledge, it is impossible to seriously model data.
Just out in Cerebellum. SCA27B - a clinical diagnosis confirmed by gene testing. 90% success rate if onset >45 years, isolated downbeat nystagmus (DBN), DBN with ataxia, or dominant ataxia with episodic worsening and exacerbation by caffeine link.springer.com/10.1007/s12311…
Spatial joint profiling of DNA methylome and transcriptome in mammalian tissues biorxiv.org/content/10.110… #biorxiv_genomic
Delighted to share the preprint on the largest obesity GWAS to date! GWAS from >2 million participants Key: ✳️13% increase in loci discovery ✳️Identified 11 obesity genetic clusters (endotypes) ✳️Obesity management should be as diverse as the condition itself Thread👇
New Online! Transcriptional and post-transcriptional regulation of transposable elements and their roles in development and disease bit.ly/4eDcpov
Our new paper was published on Development! We developed a method to label neurons with specific birthdates during cortical development, and found that genes critical for neuronal function acquire an open chromatin state prior to their actual expression. doi.org/10.1242/dev.20…
Haplotype-aware long-read error correction biorxiv.org/content/10.110… #biorxiv_genomic
It's becoming clear that assessing the effects of genetic variants on gene expression within individual cells (sc-eQTLs) instead of bulk tissue is way more efficient🧬 Now, a study in only 48 liver samples detects sc-eQTLs for >3,500 genes — 2/3 of them cell-specific👇
Anti-gene oligonucleotides targeting #Friedreich's ataxia expanded GAA⋅TTC repeats increase #Frataxin expression cell.com/molecular-ther…
Around 5-10% of the #Alzheimers cases are early-onset, and are understudied. In a multiancestry genetic study of Early-onset AD we identified eight novel genes that point to dysregulation of glutamate, immune activation @WashUMedADRC @WashUNeurology alz-journals.onlinelibrary.wiley.com/doi/10.1002/al…
Is Aging caused by DNA damage? No. And I’ll explain why. In a previous post, I explained why mitochondrial damage does not cause aging. Now it's DNA damage's turn. For decades, one of the most accepted theories held that aging was the result of accumulated damage to DNA. This…
scGT: Integration algorithm for single-cell RNA-seq and ATAC-seq based on graph transformer academic.oup.com/bioinformatics…
This should be required reading by all graduate students and postdocs | A brief guide to statistical analysis of grouped data in preclinical research nature.com/articles/s4225…
Identification of GGC Repeat Expansions in ZFHX3 among Chilean Movement Disorder Patients, representing the first #SCA4 cases identified outside Northern Europe @PaulaSaffieA @MDJ_Journal …mentdisorders.onlinelibrary.wiley.com/doi/10.1002/md…
BREAKING: MIT just completed the first brain scan study of ChatGPT users & the results are terrifying. Turns out, AI isn't making us more productive. It's making us cognitively bankrupt. Here's what 4 months of data revealed: (hint: we've been measuring productivity all wrong)
Big news: Massachusetts General Hospital ranks #1 in the world for high-impact research contributions among healthcare institutions, according to the 2024 @NatureIndex! 🌍 @mgh_transplant @MGHSurgery @MGHPathology @MGBKidneys @MGBResearchNews nature.com/nature-index/n…