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Adam Phillippy
@aphillippy.bsky.social
Director, Center for Genomics and Data Science Research @ NHGRI 🧬 Finished a human genome, working on a few more 👨‍💻 Lab: genomeinformatics.github.io Me: www.genome.gov/staff/Adam-M-Phillippy-PhD
943 followers231 following94 posts
Reposted by Adam Phillippy
MDmydennis.bsky.social

Check out our recent preprint, co-led by two former PhD students in the lab Daniela Soto and José Uribe-Salazar, in which we identify and characterize human duplicated genes implicated in brain evolution. www.biorxiv.org/content/10.1...

Gene expansions contributing to human brain evolution
Gene expansions contributing to human brain evolution

Genomic drivers of human-specific neurological traits remain largely undiscovered. Duplicated genes expanded uniquely in the human lineage likely contributed to brain evolution, including the increase...

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APaphillippy.bsky.social

The era of "whole genome sequencing" is finally here 😉

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APaphillippy.bsky.social

Another great Verkko-enabled preprint out this week "Complex genetic variation in nearly complete human genomes" from the Human Genome Structural Variation Consortium, including variant analysis of 65 near-T2T diploid human genomes: www.biorxiv.org/content/10.1...

Complex genetic variation in nearly complete human genomes
Complex genetic variation in nearly complete human genomes

Diverse sets of complete human genomes are required to construct a pangenome reference and to understand the extent of complex structural variation. Here, we sequence 65 diverse human genomes and buil...

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APaphillippy.bsky.social

T2T assemblies from none other than @sergek.bsky.social wielding Verkko 🪡

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APaphillippy.bsky.social

Such an enjoyable collaboration with Jen Gerton, @erikg.bsky.social@leogdlima.bsky.social@andreaguarracino.bsky.social and co. I've learned so much and had so much fun working this group! Much more acrocentric goodness still to come from this team 😄

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APaphillippy.bsky.social

"The formation and propagation of human Robertsonian chromosomes" ROBs are the most common translocation in humans, approx. ~1 per 800 people. Last year we proposed a simple mechanism for ROB formation; This year we prove it by finishing some T2T! New preprint: www.biorxiv.org/content/10.1...

Schematic of Robertsonian chromosome formation
FISH image and schematic of a complete Robertsonian chromosome
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Reposted by Adam Phillippy
GPgalaxyproject.bsky.social

🗞 The ERGA Assembly Report (EAR) ensures high-quality genome assemblies across diverse projects by using the Galaxy platform! Key features include: -Read QC -Assembly & gene completeness -Contaminant screening -Detailed documentation Learn more: galaxyproject.org/news/2024-09...

The ERGA Assembly Report - a community-developed Genome Assembly QC Do
The ERGA Assembly Report - a community-developed Genome Assembly QC Do

Discover more about the ERGA Assembly Report – a comprehensive, community-driven Genome assembly Quality Control Document.

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AP
Adam Phillippy
@aphillippy.bsky.social
Director, Center for Genomics and Data Science Research @ NHGRI 🧬 Finished a human genome, working on a few more 👨‍💻 Lab: genomeinformatics.github.io Me: www.genome.gov/staff/Adam-M-Phillippy-PhD
943 followers231 following94 posts