iiinova — where your digital self keeps evolving

Reposted by Guilherme Sena

Adam Phillippy @aphillippy.bsky.social · 01/08/2025

Complete genomes alert! @glennislogsdon.bsky.social, @christinebeck.bsky.social, and I were on @scifri.bsky.social today talking about "Complex genetic variation in nearly complete human genomes" 📄 www.nature.com/articles/s41... 📻 www.sciencefriday.com/segments/65-...

sciencefriday.com

65 Genomes Expand Our Picture Of Human Genetics

Researchers closely examined the genomes of 65 individuals to paint a more complex, and more complete, picture of human genetic diversity.

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Reposted by Guilherme Sena

Hannah Thomasy @hannahthomasy.bsky.social · 16/05/2025

Look at this gorgeous chonk of a baby. Look at his lil face. We are treating his life-threatening ultra-rare genetic condition with super cool science. With a gene editing tool that we stole from bacteria! Just in case you also needed a reminder that humanity can still do some pretty awesome stuff.

npr.org

A promising genetic treatment tailor-made for a baby born with a rare disorder

For the first time, doctors have created a customized treatment using the revolutionary gene-editing technique known as CRISPR to treat a baby with a rare, life-threatening genetic disorder.

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Reposted by Guilherme Sena

Prajna Hebbar @prajnahebbar.bsky.social · 10/04/2025

Our primate T2T paper came out in Nature yesterday! It was a huge effort and I'm so grateful that I got the opportunity to work with this amazing group of scientists over the first two years of my PhD! www.nature.com/articles/s41...

nature.com

Complete sequencing of ape genomes - Nature

Complete sequences of chromosomes telomere-to-telomere from chimpanzee, bonobo, gorilla, Bornean orangutan, Sumatran orangutan and siamang provide a comprehensive and valuable resource for future evol...

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Reposted by Guilherme Sena

Chris Saunders @ctsa.bsky.social · 10/04/2025

Great to see that sawfish, our new HiFi SV caller, is accepted for publication in Bioinformatics! Sawfish emphasizes local haplotype modeling to improve SV representation and genotyping in both single and joint-sample analysis. Advance-access article now available: (1/n) doi.org/10.1093/bioi...

doi.org

Sawfish: Improving long-read structural variant discovery and genotyping with local haplotype modeling

AbstractMotivation. Structural variants (SVs) play an important role in evolutionary and functional genomics but are challenging to characterize. High-accu

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Reposted by Guilherme Sena

PacBio @pacbio.bsky.social · 17/03/2025

New @naturecomms.bsky.social paper reveals the hidden world of human pseudogenes, thanks to #PacBio HiFi sequencing. Researchers overcome short-read limitations to provide a more complete and accurate view of genetic variation and improve disease-linked variant identification. bit.ly/41zlRmJ

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Reposted by Guilherme Sena

PacBio @pacbio.bsky.social · 23/02/2025

Epigenetics controls gene expression, but how do we see these modifications? Enter #PacBio Fiber-Seq—a groundbreaking method that maps DNA methylation & chromatin structure at single-molecule resolution. bit.ly/4gfQbrW #AGBTGM #AGBT25

bit.ly

Sequencing 101: Epigenetics - PacBio

Epigenetics can impact everything from development to disease. See how PacBio HiFi sequencing technology is changing the game.

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Guilherme Sena @guilhermesena1.bsky.social · 12/02/2025

I wrote about a fun combinatorial problem I came across that is very useful in bioinformatics: Add marbles to k boxes, one at a time, independently, uniformly at random. How many marbles are needed for the probability that every box has at least r marbles to be at least p? tinyurl.com/gs-stirling

guilhermesena1.github.io

Stirling numbers and a useful combinatorics problem for bioinformatics

It never ceases to amaze me that sometimes in combinatorics the difference between an elementary school problem and a lifelong career in math is one additional sentence in a problem statement.

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Guilherme Sena @guilhermesena1.bsky.social · 26/12/2024

My first animation with the manim python package! Inspired by the following question: What is the probability that a triangle whose vertices are uniformly sampled from the surface of a circle contains it center? Do you know the answer intuitively? guilhermesena1.github.io/posts/manima...

guilhermesena1.github.io

Manim, and variations of a geometry problem

IMC 2024 problem 5

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Reposted by Guilherme Sena

Claus Wilke @clauswilke.com · 17/12/2024

Bioart, courtesy of the NIH. All images are in the public domain and available for download as high-quality SVGs. bioart.niaid.nih.gov

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Guilherme Sena @guilhermesena1.bsky.social · 03/12/2024

I wrote a post in my blog after 2.5 years. It's about a string problem I passed to my students long ago. It's also about DNA palindromes and a cool application of the KMP algorithm for prefix-suffix matching. Avoid this post if you suffer from aibohphobia. guilhermesena1.github.io/posts/palind...

guilhermesena1.github.io

Palindromes palindromes palindromes!

This post explores the solution of a problem I proposed to my undergrad students when I was a TA in a computational molecular biology course. It involves palindromes so readers who suffer from aibohph...

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