Volume 226, Issue 4, April 2024

A novel mutation in the tumor suppressor SETD2 identified from renal cell carcinoma patients compromises epigenetic modification and mitotic fidelity when introduced in Drosophila, hinting at clinical relevance.

Alegria et al. present a machine vision (MV) guided generalized robot that fully automates the process of microinjection in fruit fly (Drosophila melanogaster) and zebrafish (Danio rerio) embryos. The robot performs transgenesis with proficiency comparable to highly skilled human practitioners while achieving up to 4x increases in microinjection throughput in Drosophila. The automated microinjection robot was utilized to microinject pools of over 20,000 uniquely barcoded plasmids into 1,713 embryos in two days to rapidly generate more than 400 unique transgenic Drosophila lines.

In this work Andrade et al. study the genetic architecture of trait variance and evaluate an old hypothesis stating that heterozygotes should have lower trait variances then homozygotes. The authors observe that heterozygotes do not have lower trait variance overall. The main finding is that the different ways in which loci can interact is a better model to explain the genetic architecture of trait variance, not the level of heterozygozity.

In evolutionary biology we have used synthetic data for decades, through custom simulations from evolutionary models. In this work Riley et al. focus on a generative adversarial network (GAN) method for creating realistic simulated data, inferring demography, and identifying genomic regions under selection. The neural network is first trained with fast neutral simulations, then fine-tuned with minimal simulations of selection. The result allows the authors to predict selected regions and interpret the network based on correlation patterns with known summary statistics.

Li et al. propose a new statistical method detecting low-effect genetic variants by adjusting the linear mixed models using weights learned from gene expressions.