James Lawlor

Not pictured: the tens of thousands of other collaborations in the public, private, and nonprofit spaces over ~40 years to go from basic science to treatment.

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.

Don’t think I haven’t considered it #DarkArts

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?

Don’t you mean the ill humors season?

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.

The entrance of the LA Convention Center decorated with a DNA motif for the American College of Medical Genetics conference

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

Coming Full Circle: Becoming a Genomics Scientist with CF I have always been very interested in science, eventually leading to my career as a genomic scientist. My curiosity helped me cope with the uncertainties of cystic fibrosis, leading me to many academi...

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

a man in a suit is holding three boxes of pizza . Alt: A popular animated GIF from the TV show community. A man walks into an apartment with pizza to find everything on fire and everyone panicing.

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...

GitHub - PacificBiosciences/pb-StarPhase: A phase-aware pharmacogenomic diplotyper for PacBio datasets A phase-aware pharmacogenomic diplotyper for PacBio datasets - PacificBiosciences/pb-StarPhase

“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...