Guillaume Bourque

@guilbourque.bsky.social

Prof in Human Genetics at McGill, Director of Bioinformatics at the McGill Genome Center and Director of @C3Genomics https://computationalgenomics.ca/BourqueLab/

Crushed to hear of Mark Batzer’s passing. He was the Boyd Professor at Louisiana State University. His influential research revealed how mobile elements shape the genomes of humans & other mammals. Mark’s personality, generosity & positivity were larger than life. He lifted everyone up. HUGE loss 💔

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Thanks for sharing our work, @guilbourque.bsky.social! This work will also be presented at the #ASHG2025 conference on Wednesday, October 15th, in Boston!! My poster can be found at Board 1100W at the Thomas M. Menino Convention Center. Come and talk to me 🧬!!

Guillaume Bourque@guilbourque.bsky.social · 10mo ago

🚨 New paper alert on telomeres! 🚨 Something different from the group! Thanks to Yuxin, a talented student in the lab, we used long-reads in 75 human trios to study telomeres and their inheritance.

Lentivirus massively parallel reporter assays integrate & enrich for specific sequences in the genome. We utilize this to test their epigenetic modifications & open chromatin alongside their regulatory activity. Amazing work by Zicong Zhang, Fumitaka Inoue & others. www.biorxiv.org/content/10.1...

Simultaneous epigenomic profiling and regulatory activity measurement using e2MPRA

Cis-regulatory elements (CREs) have a major effect on phenotypes including disease. They are identified in a genome-wide manner by analyzing the binding of transcription factors (TFs), various co-fact...

biorxiv.org

The human pangenome continues to grow and improve! Release 2 is here! Click through for the details, but this is a pretty amazing dataset including not just the phased assemblies, but PacBio HiFi, ONT Ultralong, Dovetail/Illumina Hi-C, PacBio Kinnex, and Illumina WGS for all samples

Human Pangenome Reference Consortium@humanpangenome.bsky.social · last yr.

📢 HPRC Release 2 is here! Now with phased genomes from 200+ individuals, a 5x increase from Release 1. Explore sequencing data, assemblies, annotations & alignments in our interactive data explorer ⬇️: humanpangenome.org/hprc-data-re...

Excellent opportunity for PI positions at the Genome Institute of Singapore! Outstanding facilities, latest genomic technologies, strong and stable science funding. Junior candidates and established scientists are welcome to apply

A*STAR Genome Institute of Singapore (A*STAR GIS)@astar-gis.bsky.social · last yr.

Are you passionate about advancing scientific research?🧬🔬 🧪 We are #hiring Principal Investigators who are ready to make a difference in the world of genomic research in AI, Computational biology to develop novel high throughput technologies for unveiling new insights into the biology of DNA or RNA!

Check out the new STR tool from @davidlougheed.bsky.social in the group! Works with both PacBio and Nanopore!

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David Lougheed@davidlougheed.bsky.social · last yr.

I’m happy to (finally!) share STRkit, a short tandem repeat genotyping tool for long reads that I've developed in @guilbourque.bsky.social's group over the past few years. Here we describe STRkit & demonstrate state-of-the-art performance in some benchmarks – long reads are great for resolving STRs!

On January 6th, 1995, my (now ex) wife and I boarded a flight from Heathrow to JFK on a one way ticket. We had two suitcases and about $900 in cash - this was everything we owned and we were moving to the US. We thought it was maybe for 2-3 years. I had visited the US once, for a conference, and