Jack Humphrey
@JackHumphrey_
Trying to understand neurological disease through genomics. Out-reacher. Occasional boulderer. Instructor at Mount Sinai.
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/articles/s4158…
Very excited to receive funding from @TargetALS_fdn for our international consortia between @SinaiBrain , @UCLIoN and @UKDRI at Edinburgh. @RickiePatani, @HaselPhilip , Andrea Malaspina, really looking forward to working with you all!
🎉 Announcing the 2024 Basic Biology Consortia Grant Recipients! 🧬 We're thrilled to award six innovative projects funds to accelerate the discovery of effective treatments for sporadic #ALS. 🔗 Read more: bit.ly/4eUamw6 #ALSResearch #EndALS #EveryoneLives
(1/11) Genomics databases, like the SRA, host tons of data. But data access is challenging, driven largely by tooling. Below is a brief history on genomics data access. 🧵
Extracting @NCBI SRA files with fasterq-dump can require 17x the size of the accession while decompressing. Our new tool xsra extracts sequences at 5x throughput with significantly less disk usage, built-in compression, and optional BINSEQ outputs github.com/arcInstitute/x…
Thank god for @biorxivpreprint - why does a benchmarking paper for a novel technology require 3.5 years in review and 168 pages of review responses? Do we not all have better things to do?
This Analysis presents benchmarking results from the Singapore Nanopore Expression consortium project, including a valuable resource of datasets generated from various long-read and short-read RNA sequencing technologies. nature.com/articles/s4159…
We’re recruiting study participants with and without amyotrophic lateral sclerosis (#ALS) to build a biorepository for future #ALS research. Learn more: bar.rw/targetals
One of the many reasons we are forming a union with @UAW is to have a bigger voice in decisions about science funding at the national level. This moment makes it even clearer how important that is for us as researchers. See you at Washington Square Park #DefendPublicResearch
The Trump administration is attacking public research funding - and we’re fighting back! Join academic workers and allies across the country for a National Day of Action on 2/19. For more details, check out: labor4highered.org In NYC: 📅 Wednesday, Feb 19, 4 pm 📍…
Friends and colleagues, I’ve written a book on effective functional genomics study design, which will be available on Amazon in a couple of weeks. Sharing the TOC to spark interest. I hope students will find it useful! I’ll share updates soon
Possibly useful little #Rstats trick: edit(names(iris)) will create a popup with the R code for the character vector containing the column names of your data frame that you can copy and paste, e.g. c("Sepal.Length", "Sepal.Width", "Petal.Length", "Petal.Width", "Species")
New work reveals the impact of anxiety & depression on PhD students. "Anxiety and depression can have a substantially detrimental impact on graduate students’ experiences [..] and likely also contribute to increased time to degree and student attrition." nature.com/articles/s4158…
New biotech launch (@TraceNeuro) targeting UNC13A in ALS with an ASO is another example of human genetics informing drug development🧬 UNC13A was among the first GWAS hits discovered for ALS nature.com/articles/ng.442 businesswire.com/news/home/2024…
Heading to Denver for #ASHG24 #ASHG2024! Excited to share latest work on #RNAediting in the brain (featured session lead by @drcuddleston ), #APOE-stratified QTLs in microglia (@naito_tatsuhiko ) & single-cell eQTLs (Jin) + splicing regulation in 10K brains (@aline_real25 ,…
Nation’s Indigenous People Confirm They Don’t Need Special Holiday, Just Large Swaths Of Land Returned Immediately theonion.com/nation-s-indig…
Applications are now open for #facultypositions w/ @SinaiGenetics. Join a world-class department ranking #2 nationally in genetics research funding🌟Learn more: mountsinaigeneticscareers.org/faculty-tenure… #openfacultypositions #academicpositions #geneticsresearch #academicjobs #academictwitter
Great to see this published, exciting #teamscience uncovering genetic architecture of #PSP with @kurtmountain @JohnCraryMDPHD @SinaiBrain
Genetic, transcriptomic, histological, and biochemical analysis of progressive supranuclear palsy implicates glial activation and novel risk genes #neuropath nature.com/articles/s4146…
For nearly 2 decades, Alzheimer’s disease (AD) “genome-wide” association studies only covered the autosomes. Today we unveil the X chromosome and prioritize SLC9A7, a.k.a. NHE7, as an AD risk gene. Article: jamanetwork.com/journals/jaman… Editorial: jamanetwork.com/journals/jaman…
Accurate long-read transcript discovery and quantification at single-cell, pseudo-bulk and bulk resolution with Isosceles nature.com/articles/s4146… #journals #feedly
Eugenics today: Breeding for IQ. My essay is #3 in the Legacies of Eugenics series in the @LAReviewofBooks lareviewofbooks.org/article/breedi…
Amazing work @DanieleMattei4 !
Processing human brain donor MG100. This marks the 100th human #microglia sample processed for multiomics in the @towfiqueRaj group, to study the role of myeloid cells in #neurodegenration. Grateful to donors&families that enables our research. @JohnCraryMDPHD
🎉 Announcing the 2024 Basic Biology Consortia Grant Recipients! 🧬 We're thrilled to award six innovative projects funds to accelerate the discovery of effective treatments for sporadic #ALS. 🔗 Read more: bit.ly/4eUamw6 #ALSResearch #EndALS #EveryoneLives
Follow the new MND Research account @mndresearch. Easily one of the best sources of ALS/MND research information in the world.