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Reposted by Guillaume Bourque

Yuxin Zhou @yuxinzhou.bsky.social · 10h

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 · 22h

🚨 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.

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Guillaume Bourque @guilbourque.bsky.social · 20h

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).

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Guillaume Bourque @guilbourque.bsky.social · 22h

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...

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....

www.biorxiv.org

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Guillaume Bourque @guilbourque.bsky.social · 22h

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).

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Guillaume Bourque @guilbourque.bsky.social · 22h

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.

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Guillaume Bourque @guilbourque.bsky.social · 22h

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.

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Guillaume Bourque @guilbourque.bsky.social · 22h

🚨 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.

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Guillaume Bourque @guilbourque.bsky.social · 12d

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

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Reposted by Guillaume Bourque

John Greally @greally.bsky.social · Aug 18

Looks like my book is available for pre-order:

a.co/d/cTKIwBN

#EpigeneticsBook

Amazon.com

a.co

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Guillaume Bourque @guilbourque.bsky.social · Aug 17

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!

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Guillaume Bourque @guilbourque.bsky.social · Aug 11

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...

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Guillaume Bourque @guilbourque.bsky.social · Jul 30

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.

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Guillaume Bourque @guilbourque.bsky.social · Jul 23

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.

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Guillaume Bourque @guilbourque.bsky.social · Jul 21

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/...

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.

www.science.org

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Reposted by Guillaume Bourque

Nadav Ahituv @nadavahituv.bsky.social · Jul 1

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...

www.biorxiv.org

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Reposted by Guillaume Bourque

Adam Phillippy @aphillippy.bsky.social · May 12

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 · May 12

📢 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...

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Reposted by Guillaume Bourque

Genome Canada @genomecanada.ca · Apr 25

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.

The Conversation Canada @ca.theconversation.com · Apr 23

A golden era for personalized medicine is approaching, but are we ready?

By understanding a patient’s unique genetic profile, biomarker readings and lifestyle information, doctors could tailor the most effective and safest treatments for that individual.

theconversation.com

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Reposted by Guillaume Bourque

Jonathan Göke @jonathangoeke.bsky.social · Apr 14

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 · Apr 14

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!