Luke O'Connor
@Luke0connor
Statistical genetics - Genetic architecture and disease biology - Assistant Professor @HarvardDBMI
Excited to share that Ajay's paper is now out @NatureGenet : Transcriptome-wide analysis of differential expression in perturbation atlases rdcu.be/eiyI3
How do genetic perturbations change cells? How are these effects shaped by cell type and dosage? How do we best extract insight from modern massive perturbation atlases? Im pleased to share a new preprint where we develop a suite of statistical approaches to these Qs (link below)
Congrats @NadigAjay on TRADE out now in @NatureGenet: nature.com/articles/s4158… These statistical metrics enable more meaningful comparisons in Perturb-seq atlases. Also, now find the HepG2 and Jurkat Perturb-seq datasets on GEO GSE264667!
The university will not surrender its independence or relinquish its constitutional rights. Neither Harvard nor any other private university can allow itself to be taken over by the federal government. hrvd.me/ResearchFundin…
Excited to share our preprint: Cohort-level analysis of human de novo mutations points to drivers of clonal expansion in spermatogonia! We developed methods to uncover drivers of clonal expansions in sperm (CES) using 55k disease trios & gnomAD SNV data. medrxiv.org/content/10.110…
Super excited to release this new preprint: Jeff and Hakhamanesh drill into key questions about GWAS and rare variant studies: What SNPs and genes do these discover and why? We introduce a concept called SPECIFICITY, which we show is a fundamental determinant of GWAS/RV studies
How do genetic perturbations change cells? How are these effects shaped by cell type and dosage? How do we best extract insight from modern massive perturbation atlases? Im pleased to share a new preprint where we develop a suite of statistical approaches to these Qs (link below)
Excited to share our recent work: expansions and contractions of DNA repeats have produced many genetic polymorphisms. We studied repeat instability among >700,000 biobank participants using new computational approaches to analyze DNA sequencing data. biorxiv.org/content/10.110…
I wrote about the National Institutes of Health and the various serious and unserious proposals for NIH reform that have been floating around. It is important to understand how this agency actually functions and point criticism at the right problems. A short 🧵:
#ASHG24 come see @lu_wenhan speak today about rare variant architecture! Heritability and effect-size distribution of rare and de novo protein-coding variation 8:15 in room 501
Come to Amber Shen’s #ASHG24 poster today: 4053T, “Efficient genealogical compression for biobank-scale datasets” Describes the “linear ARG”, a representation of the genotype matrix that is highly compressed, and convenient for applications Great collab with @nmancuso_
Excited to share our preprint, describing a method for heritability partitioning with GWAS sumstats that significantly improves upon S-LDSC Led by the fantastic Hui Li, and co-supervised by @XihongLin #ASHG24 poster 4089F medrxiv.org/content/10.110…
This Monday (10/28) at 5pm (Eastern Daylight Time): Info session about our bioinformatics/genomics PhD program! I will describe the basics and take your questions.
PhD in Biomedical Informatics applications accepted now through December 1. Join our virtual info sessions to learn more! - AI in Medicine (AIM) track 10/30 5pm ET harvard.zoom.us/webinar/regist… - Bioinformatics and Integrative Genomics (BIG) track 10/28 5pm ET harvard.zoom.us/meeting/regist…
Noah is a wonderful explainer of concepts and ideas!
4/4 The recording of "Connecting GWAS & eQTLs through colocalization" by Noah Connally (@eenork and @Luke0connor labs) is now available: youtu.be/lfHa7mmjv1I This talk is part of @broadinstitute's MPG Primer series. For more info, check out broad.io/MPGPrimer #MPGPrimer
Two new chapters from my free online book in human genetics out this weekend! These complete Part 3 of the book, on human population structure and history: 3.3: Inferring human prehistory from genetic data [this thread] 3.4: Ancient DNA [next thread] web.stanford.edu/group/pritchar…
I'm delighted to release the first half of my new open-access online textbook in human population genetics: web.stanford.edu/group/pritchar…