Can LLMs predict the effects of all potential missense variants in the human genome? Predicting the effects of genetic variants on human proteins can be quite challenging. Existing methods struggle to accurately distinguish between harmful and benign variants, especially when

Here's a link to the paper if you're interested in reading and looking at her really cool drawings:

Nettie Stevens discovered sex chromosomes in 1905. This former school teacher became a genetics pioneer that you need to know! The late 1800s were a turning point in American history for women. The end of the Civil War marked the start of the women's rights movement and granted

Ethnic stratification and why single reference based analysis methods aren't 'good enough' in 2023. If you've done genetics for any amount of time you know that stratification of populations is important for getting useful information out of them. But if you're not a

While everyone else was distracted by the structure of DNA, Barbara McClintock was figuring out how chromosomes exchange information, and discovered a little thing called the transposable element. The 1950's were a turning point in the fields of molecular biology and genetics.

High throughput sequencing metrics: Don't be a monster, review them before sending data to the triage team. One of the most important things to avoid when doing high throughput sequencing is 'bias.' Properly assessing your post-alignment and variant calling metrics is super

Hey Oncology Market: The proteome is coming at you faster than you think. One of the early promises that was made during the pitch for funding the human genome project was that once we had figured out the code of life, we'd be able to understand and cure all diseases. In

Mendel first described his laws of genetic inheritance in 1865. They were promptly ignored for 35 years. Because, let's be honest, who gives a husk about peas?!?! It probably also didn't help that his paper was titled, 'Versuche über Pflanzenhybriden.' Which in English

Detecting variants can be challenging, especially detecting the ones that aren't very abundant. Unfortunately, there are a good number of labs that use the default settings for their sequencing analyses, and/or implement premade pipelines that they 'validate' without doing the

This paper is low key mindblowing and it got 7 likes and 3 retweets 🤣 Review coming next Tuesday.

Spoiler Alert: The future of disease early detection isn't going to be genomics. We already have some pretty good hints that this is true. One of them is that the hottest Multi-cancer early detection (MCED) screening test is based on methylation. This falls squarely in the

A wise artist once said, "Any reason is a good reason to draw a [bunch of] birds." I've now drawn a representative of every living bird group ranked at the level of family by the IOC World Bird List (and a few that aren't)!

The two gels below spawned a multi-billion dollar industry that didn't exist prior to their publication in 1997. While it may seem obvious today, you might find it surprising that we didn't know that fetal DNA was present in a pregnant mother's bloodstream until the late 1990's.

High throughput sequencing: Biases and how they can get the best of you and your data. One thing that has always kept me up at night is thinking about all of the different ways that bias can be introduced into the genetic testing process. Nearly every step presents multiple

Crane, pheasant, peacock? Nope, that's a Hoatzin, and no one really knows where it came from. If we've learned anything from the history of science, some of our best lessons in genetics come from studying plants and animals. Birds are an especially useful subject for these

The structure of the DNA double-helix was published in 1953, but it took another 13 years to actually crack the genetic code. The two key questions after the structure of DNA was figured out were: 1) How is it copied? 2) How does it code for proteins? The first question was

High throughput sequencing metrics: Q-scores, what are they good for? If you've done sequencing in the last 30 years, you've heard of a Q-Score and you probably know that they're a measure of quality. But what you might not know is where this metric came from. The idea of

A and T, and G and C are present in the same amounts in DNA. It’s like the most basic rule of DNA. It’s also called Chargaff’s Rule. Well before the structure of the DNA double helix was revealed by Watson and Crick (with the help of Rosalind Franklin!), biochemists first had to

High throughput sequencing metrics: Let’s be accurate about accuracy. If “What is a genome?” is the most loaded question in the world of short-reads, the most loaded question for long-reads is “What’s the accuracy?” A lot of this comes down to the semantics that PacBio and

Why is it that the people who cut corners always whine the loudest about regulation stifling innovation? You might have heard that a submarine imploded recently while on a luxury tour of the site where the Titanic sank. Ok, maybe not luxury, but a very expensive tour of the