🧬 Ever wonder how fast your DNA changes from one generation to the next? @hdashnow.bsky.social and her team explored how quickly the human genome mutates by analyzing DNA from four generations of a single family. Dive into this video from @nature.com ⤵️

A new article from Laurel Hiatt and @hdashnow.bsky.social describing STRchive is now available at Genome Medicine. genomemedicine.biomedcentral.com/articles/10....
Check out the database resource, as STRchive "streamlines TR variant interpretation at disease-associated loci."
strchive.org

The strchive.org paper is out!!
The paper describes STRchive as a resource to improve the diagnosis of tandem repeat disorders, then goes beyond it to consider what can be learned about childhood onset and population prevalence of these diseases.
🖥️ 🧬
link.springer.com/article/10.1...

I am excited to present STRchive.org v2!

A resource for tandem repeats associated with Mendelian disease. We have resigned the website, added new loci, streamlined our data for easier reuse, added more detailed citations, presented population frequency data and more!

I’m launching a small but mighty starter pack for Academic Research Moms- those of us navigating the travails of parenthood and academic careers- and those who support them! Aka 💪 ARMy bsky.app/profile/did:...

Enjoying all the tandem repeat fun at #ASHG24?
The Dashnow lab is hiring software developer/data analyst roles. Apply by Nov 13 for best consideration
dashnowlab.org 🖥️ 🧬

Very cool new work by @htanudisastro.bsky.social on the contribution of tandem repeat variants to gene expression in single cells! Check it out.

I am currently recruiting a computational postdoc in my lab at CU dashnowlab.org
The candidate would develop and use computational genomics methods to understand the genetic underpinnings of rare diseases and increase diagnoses.
Pay starts at $70k for recent PhD grads

Our review article, with Ira Deveson, @hdashnow.bsky.social, @dgmacarthur.bsky.social, on sequencing & characterising short tandem repeats is out in @NatRevGen! We delve into short read & long read STR genotyping tools and applications in rare disease & population genetics 🧬go.nature.com/48pWZix

Our paper was published today in Nature Biotech!
www.nature.com/articles/s41...
Tandem Repeat Genotyping Tool (TRGT) is a new method for genotyping tandem repeats in PacBio HiFi long reads. We used some nice algorithmic strategies to improve genotyping accuracy.
🖥️ 🧬

My "Friends don't let friends make bad graphs" repository has reached 1000+ stars on GitHub! I can't believe it! Thanks everyone for the interest and support. Gonna add this to my CV. 😂😂😂

github.com/cxli233/Frie...

I'm looking for talented postdocs and staff scientists/software developers to join my lab at
medschool.cuanschutz.edu/dbmi
If you're fascinated by #RareDisease genomics, #STRs and computational methods, please get in touch! I'm at #ASHG2023 this week, and happy to chat. #hiring

We're hiring a new faculty member in Clinical Informatics! Read more and apply at the link.

cu.taleo.net/careersectio...

I had NO idea this is a thing - great tip!!

Could you please add me to What's Science for 🖥️ 🧬? @danirabaiotti.bsky.social

Just launched:

STRchive
(Short Tandem Repeat Archive)

A database of STRs associated with disease in humans.
harrietdashnow.com/STRchive/

This is inactive development. Looking for feedback and collaborators!