Bitesized Breakthroughs: Genetics

Family Ties
Though genomic studies have developed our understanding of heart disease risk, an American Heart Association statement highlights the lack of representation of marginalized racial and ethnic groups and Indigenous people (1). Despite only making up 16 percent of the global population, about 79 percent of genomic study participants are of European descent.

On/Off Switch
Researchers have developed a new software – Bayesian Inference Transcription Factor Activity Model (BITFAM) – to identify meaningful transcription factor activities in cells and reveal underlying gene regulatory mechanisms (2). The software works by combining ChIP-seq transcription factor information and scRNA-seq data analysis.

Eat, Sleep, (Tandem) Repeat
A new software that identifies variable-number tandem repeats (VNTR) with a repeat-pangenome graph solves the problem of VNTR mapping for short-read sequencing (3). It will enable researchers to better identify DNA variants involved in genetic changes that influence cell function and disease.

Forensic Files
Duct tape is a common piece of evidence recovered from water in forensic investigations. New research has found that, as long as there was sufficient cellular material initially, enough DNA can be recovered from folded duct tape submerged in the ocean for up to 336 hours to form a complete short tandem repeat profile (4).

Behind the Disorder
A newly identified genetic pathway may underlie a rare neurodevelopmental disorder (5). “Our findings have given us valuable insight into the role of MeCP2, miR-199a, and BMP signaling in the pathology of Rett syndrome,” says team lead Kinichi Nakashima (6), who is working to uncover the mechanism behind disease-causing MECP2 mutations.

Staying on Schedule
After identifying that scheduling algorithms for laboratory automation fail to account for time constraints by mutual boundaries (TCMB), researchers have defined a “scheduling for laboratory automation in biology” (S-LAB) problem in labs where different instruments perform TCMBs (7). In doing so, they have found a way to maximize the number of experiments that can be performed within individual laboratories’ time and resource constraints.