A photo with decades of research progress: Francis Collins, who led one of the research labs investigating the genetic basis of Cystic Fibrosis; me, during my workday in a research lab investigating the genetic basis of other rare and undiagnosed genetic diseases; and my newest CFTR modulator.

Workflow managers are great for bioinformatics, but do I get a special gold star for running a snakemake, nextflow, and cromwell pipeline at the same time?

Movies you’ve watched more than six times using GIFS:

You look at science (or at least talk of it) as some sort of demoralizing invention of man, something apart from real life, and which must be cautiously guarded and kept separate from everyday existence. But science and everyday life cannot and should not be separated.

Rosalind Franklin (to father)

[bluesky timeline]

me: [chanting] blogs, blogs-

other users: blogs, BLOGS

bluesky staff: [pounding their computers] BLOGS, BLOGS, BLOGS!

Come see me at #ACMGMtg25 #ACMG P636: Implementing Structural Variant Analysis in Codicem, A Comprehensive Clinical Variant Analysis Platform

Anna Hurst #ACMGMtg25 describing a patient through Undiagnosed Diseases Network (UDN). Eventually sent for long-read sequencing (#PacBio) through HudsonAlpha. Found *TWO* pathogenic repeat expansions (HTT and ATXN80S) in the individual, possibly creating additive effect and earlier onset.

First time at #ACMG #ACMGMtg25

One excellent seminar on State Rare Disease Advisory Councils so far, and plenty more sessions to go

For my AL science peeps:

Senator Britt DC office 202-224-5744

Senator Tuberville DC office 202-224-4124

Call it in today folks! All hands on deck! Please repost.

American science and medicine has been thrown into chaos and uncertainty over the past week. Here are some stories to get up to speed. 1/12

In lieu of a “Hi bluesky” introduction, a pair of blog posts from last year’s Rare Disease Day. 🧵 (1/2)

Me, recently: You know, I'd like to start being active on Science Bluesky in the near future. 🧬

This week:

I've been informed the DOI link is not working yet, here's the bioRxiv URL in the interim:
www.biorxiv.org/content/10.1...

“StarPhase: Comprehensive Phase-Aware Pharmacogenomic Diplotyper for Long-Read Sequencing Data” is now on biorxiv! In this work, we explore the use of long-read sequencing (#PacBio #HiFi) for #pharmacogenomics #PGx. 1/N

Pre-print: doi.org/10.1101/2024...
Repo: github.com/PacificBiosc...