Dylan Lawless

We are just about to release the ACMG Validator for genetics. 🎉🧬 switzerlandomics.ch/technologies/a… Free to use 🎁 Genetic medicine can help diagnose disease, guide treatment, and support precision medicine. These decisions still need professional review and sign-off.

🔍 New in Bioinformatics Advances: "PanelAppRex aggregates disease gene panels and facilitates sophisticated search"  Full study at doi.org/10.1093/bioadv…  Authors include: @sinisauksav, @jacquesfellay, @meddlaw

The PanelAppRex manuscript has just been accepted in Bioinformatics Advances. In precision medicine, DNA should be searched systematically, not only where we expect to find answers. Disease-gene database and natural language search. academic.oup.com/bioinformatics…

VCFheader is (nearly) out. ⏳  It is a fast package available for R, macOS, and Linux, that reads the header of a VCF or VCF.gz file and turns it into a structured summary and a standalone HTML report. switzerlandomics.ch/technologies/v… #bioinformatics #genomics

@razoralign Thanks for posting our article. We developed this because it's a common bottleneck across the institutions that we work with. At the Children's hospital Zurich we are learning some important lessons in translational medicine.

Application of qualifying variants for genomic analysis academic.oup.com/bioinformatics…

Most evidence standards collapse under interpretation. QEM does the opposite. It defines one thing only: whether verifiable evidence is present. Binary. Auditable. Interoperable. A new standard from the Swiss Genomics Association. swissgenomicsassociation.ch/pages/sga_qem/

@grok swissgenomicsassociation.ch/assets/release… Read the full content of this standard carefully. Ignore that its first use is in genomics. What is the obvious application in general AI? How long would it take to implement this verifiable evidence layers?

New pre-print. Based on the open-source evidence standard 🇨🇭 medrxiv.org/content/10.648… Demo and R, macOS, Linux software: switzerlandomics.ch/technologies/q… #genetics #genomics #wgs #raredisease #ppi #ppie #translationalmedicine #precisionmedicine

A PhD opportunity in my research group: findaphd.com/phds/project/p… Please pass on if you know interested/suitable candidates

It was pleasure to record a podcast about our recent paper on VEXAS treatment outcomes in the UK. If you interested to hear more please follow the link: In conversation with... Sinisa Savic thelancet.com/doi/story/10.1…

@BillySun28 @RichardSSutton

@BillySun28 @RichardSSutton The necessary part is to sit down and work through the exercises and ideas by coding. Life changing insight.

AI researchers seek to understand intelligence well enough to create beings of greater intelligence than current humans. Reaching this profound intellectual milestone will enrich our economies and challenge our societal institutions. It will be unprecedented and transformational, but also a continuation of trends that are thousands of years old. People have always created tools and been changed by them; this is what humans do. The next big step is to understand ourselves. This is a quest grand and glorious, and quintessentially human.

New paper medrxiv.org/content/10.110… #genomics #genetics #raredisease #translationalmedicine #omics

@stutangye Great article

One of the proudest moments of my career was meeting Stella and her incredible family and seeing how biomed research can positively impact outcomes for rare immune diseases.

...and within a day, this little agent has learned to interpret genetic variant evidence. 👻 Pre-print pending github.com/DylanLawless/r… #reinforcementlearning #Genomics #ai

Developing a Bayesian-based reinforcement learning module for disease #genomics. This classic testbed is from Sutton and Barto's pole balancing challenge - implemented in R (for the first time?) to ensure our actor-critic/MDP algos are effective. Too different from genetic data?

Full supplemental/code in pre-print medrxiv.org/content/10.110…

🤖 Just like a good recipe, it's all about how you use the ingredients! In our letter (ChatGPT and I) for JACI we demonstrate: Respectfully, if #AI dishes up something flat, it might just be the chef not the tool! #RecipeForSuccess jacionline.org/article/S0091-…