Adam Phillippy

@aphillippy.bsky.social

Finished a human genome @ NHGRI, working on a few hundred more @ Johns Hopkins University 👨‍💻 Lab: https://genomeinformatics.github.io

Here's the ad for the Genome Sciences faculty positions ap.washington.edu/ahr/position...

Position Details - Academic Personnel & Faculty

ap.washington.edu

Maitreya Dunham@maitreya.bsky.social · 2w ago

Exciting news: @uwgenome.bsky.social will be hiring for two tenure-track faculty positions this year, one open rank and one assistant professor. Both are “Genome Sciences” interpreted broadly so we welcome applicants working in a variety of fields and methods. Ad will be out shortly.

Exciting news: @uwgenome.bsky.social will be hiring for two tenure-track faculty positions this year, one open rank and one assistant professor. Both are “Genome Sciences” interpreted broadly so we welcome applicants working in a variety of fields and methods. Ad will be out shortly.

Happy to share results of the @bat1kgenomes.bsky.social phase 1, providing reference genomes covering 21 bat families. New insights into bat phylogeny, ancestral genome reconstruction, European origin & ancestral echolocation. Great work by a team of 100+ colleagues www.nature.com/articles/s41...

Reference genomes and fossils revise bat family phylogeny and biogeography - Nature

An updated phylogeny of bats is presented, based on new genome assemblies and many ancient fossils and including all known bat families.

nature.com

What can we learn about a single rare variant? Published today in Science: the 23andMe Research Institute and Dana-Farber studied the EGFR T790M in 10.1M 23andMe research participants. The variant has OR = 25.2 for lung cancer, rising to 61.7 in never-smokers(!). 🧵

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Everything you wanted to know about single-molecule epigenomics but were too afraid to ask! Wonderful to co-write (h/t ENORMOUS lift by @arnaudkr.bsky.social) this primer on our nascent field. Also, a 💯 example of wonderful colleagues building something *together*, not in competition =)

A practical guide to studying genome function using single-molecule genomics

Nature Reviews Molecular Cell Biology - Single-molecule genomics methods are used to study the activity of regulatory factors on individual DNA molecules genome-wide, thereby enabling...

nature.com

Scientists including @aphillippy.bsky.social, @mikeschatz.bsky.social, & @stevensalzberg.bsky.social have reconstructed the complete genome of a real person, a breakthrough expected to advance research, improve the diagnosis of genetic diseases, & make personalized genomics routine in medical care.

Human genome milestone opens door for personalized genomics

The ability to quickly and affordably survey a patient's entire genome is expected to accelerate research, diagnostics, and precision medicine

hub.jhu.edu

Dangit but sciencing is fun. Discovered a >>10Mb pericentromeric inversion that looks like it adaptively introgressed and is a massive QTL for disease resistance. Preliminary and could be totally wrong, but holy bleep it's been a fun 90 minutes working this out (we had suspected much of this).

On our last day, the lab ran a pop-up coffee shop for our NHGRI colleagues, staffed by our own highly experienced baristas Suhani and Serge. Farewell NIH! Thanks for being a great home for the past 11 years 🥲 Watch for our next pop-up at Hopkins once we get properly equipped 😁

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NHGRI is recruiting genomics oriented researchers through the Stadtman mechanism. It is also open to any kind of research, the goal is to match your interests to an institute. The applications are now open until Oct. 1st. Details below:

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New issue alert👉https://cell.com/cell/current On the cover: The Telomere-to-Telomere Consortium has finished the complete, diploid genome of a person. The cover is inspired by a karyotype of the chromosomes in metaphase, representing the two haplotypes as different colors.

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