iiinova — where your digital self keeps evolving

Reposted by David Lougheed

Yuxin Zhou @yuxinzhou.bsky.social · 15/10/2026

I’ll be giving a plenary talk at #ASHG2026 ✨✨✨ Sharing our latest findings on Telomere Inheritance! 🧬 📍 Room 517, Level 5: Plenary Abstract Session II 📅 Thursday, October 22 ⏰ 3:08–3:26 PM EDT If you’re attending ASHG this year, I’d love for you to come to the talk and connect😊!

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David Lougheed @davidlougheed.bsky.social · 16/07/2026

I'm a bit disappointed to learn that @biorxivpreprint.bsky.social lacks a policy on clearly hallucinated references in preprints, unlike arXiv (www.nature.com/articles/d41...) – meaning bioRxiv preprints can mis-cite my/others' work with an invented author list & the wrong journal, DOI, and title...

A hallucinated reference to the STRkit tandem repeat caller

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Reposted by David Lougheed

bioRxiv Genetics @biorxiv-genetic.bsky.social · 08/10/2025

Long-read sequencing reveals telomere inheritance patterns from human trios www.biorxiv.org/content/10.1101/202…

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David Lougheed @davidlougheed.bsky.social · 01/04/2025

STRkit still does support a degree of deviation from the reference motif, even with only the reference genome motif as input. (3/3)

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David Lougheed @davidlougheed.bsky.social · 01/04/2025

... or the poly-alanine expansion in HOXA13/HOXD13 which causes HFGS (doi:10.1007/s00439-002-0712-8), but it's not as flexible as TRGT's system for instance, which supports a pattern (see github.com/PacificBiosc...) (2/3)

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David Lougheed @davidlougheed.bsky.social · 01/04/2025

Thanks for the question! It depends on the degree of deviation, and knowledge of the tandem repeat - the user can specify a motif with IUPAC codes in the input repeat catalog, which would work for something like the SCA37-causing DAB1 repeat ([RAAAG]n; doi:10.1016/j.ajhg.2017.06.007) (1/3)

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David Lougheed @davidlougheed.bsky.social · 29/03/2025

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!

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