Guillaume Bourque

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 💔

Nice Christmas gift to see it in print!

Exciting new conference!

Congrats Manvendra, well deserved!

GA4GH April Connect 2026 registration and session proposal submissions are now open!

The meeting will take place from 14 to 17 April 2026 in Montreal, Canada. We invite the GA4GH community to submit session proposals by 30 January.

Learn more: broadinstitute.swoogo.com/connect26/10...

Exciting! Glad to see the Gold Cohort starting to get used for new discoveries!

Excited to share our preprint on the “Integrated Metabolic Complex Genetic Interaction Network of Chromosome 4p Loss in Basal Breast Cancer” led by @lynnkaram.bsky.social! www.biorxiv.org/content/10.1...

Such a great @ga4gh.org meeting in Uppsala this past week. Genomics, with the help of GA4GH standards and policies, is really moving into the Age of Implementation globally!

I was also very impressive by the progress over the last year. GA4GH is really moving into the Age of Implementation!

If you’re planning to be at ASHG, you should go see the poster ⬇️

Wow, great summary!

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 🧬!!

We did our best to match the age of the parents at conception and this is only measuring lengths in the child. Moreover, given that the dads are older than mom, if anything we are under-estimating the difference (since older should mean shorter).

Long-read sequencing reveals telomere inheritance patterns from human trios Telomeres are essential for maintaining genomic integrity and are associated with cellular aging and disease, yet the factors influencing their inheritance across generations remain poorly understood....

This suggest that telomere maintenance in sperm is more robust than in oocytes and impacts the inherited telomeres. Full paper is below. Curious to know what you think as this is a new area for us!
www.biorxiv.org/content/10.1...

The most interesting finding was that in the child, paternally transmitted alleles were significantly longer than age-matched maternal ones (Δmean = 409 bp), particularly when from older parents (Δmean = 698 bp, p = 8.9e-05).

It got really interesting when we started to do allelic tracing since we had trio data. Amazing to be able to do it by eye in some cases and then @davidlougheed.bsky.social helped us build a tool called TeloScore to apply it to all the families we had.

We were able to confirm that different chromosome arms have different length distribution, consistent with what was reported in Karimian et al 2024. We also observed the expected age-related length decrease.

🚨 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.

So inspiring to run with Darryl Fox to support Terry’s dream and the @marathonofhope.bsky.social

Looks like my book is available for pre-order:

a.co/d/cTKIwBN

#EpigeneticsBook

Dear @moriartylab.bsky.social, thanks for sharing your story! It was great to work with you at the beginning of the pandemic. I’m so impressed by how much you were able to do since then! You have always been truly committed to the cause. Please take care of yourself, it all starts with that!

Excited for the start of the Croucher Retrotransposons meeting organized by Danny Leung in Hong Kong. First speaker, the King of Krabs!

projects.croucher.org.hk/advanced-stu...

The issue that jumped at us in the current annotation of young LTR subfamilies in human, is that there was lot of variability in divergence rate (sometimes bimodal). That's what we tried to improve.

We don’t claim to do it perfectly either… Just think it’s important to highlight the annotation problem and show that we have new tools (eg MPRA) to improve things.

A phylogenetic approach uncovers cryptic endogenous retrovirus subfamilies in the primate lineage A phylogenetic approach reveals cryptic LTR subfamilies and functional insights at nucleotide resolution in primates.

Is the annotation of viruses in the human genome accurate? We think not. Take a look at our new paper and let us know if you agree! www.science.org/doi/10.1126/...

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...

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...

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

Canada’s genomics community is rising to the challenge.

➡️ We’re sequencing 100K human genomes in 4 years to give researchers and innovators the data they need to transform health care.

Learn how the diversity of the dataset we build will set Canada apart as a global leader in #PrecisionHealth.

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

Bye bye magical Kyoto, see you next time!