Skip to main content
Premium Trial:

Request an Annual Quote

Myotonic Dystrophy Repeat Detected in Family Genome Sequencing Analysis

In the European Journal of Human Genetics, a team from the Walter and Eliza Hall Institute of Medical Research, the University of Melbourne, and other centers in Australia presents a case of type 2 myotonic dystrophy detected with whole-genome sequencing on a multi-generational family originally enrolled in an autism spectrum disorder (ASD) study. The investigators searched for short tandem repeats (STR) in genome sequences for children from four nuclear families within the larger pedigree, focusing on a CNBP gene STR that turned up in two of the family members. While the STR did not coincide with ASD in the pedigree, the authors write, it did appear to correspond with mild myotonic dystrophy type 2 symptoms in the mother of two children carrying the repeat expansion. "We show that the implementation of an STR analysis pipeline to screen all WGS datasets has considerable diagnostic utility, both in the clinical and research domain," they add.

The Scan

Machine Learning Helps ID Molecular Mechanisms of Pancreatic Islet Beta Cell Subtypes in Type 2 Diabetes

The approach helps overcome limitations of previous studies that had investigated the molecular mechanisms of pancreatic islet beta cells, the authors write in their Nature Genetics paper.

Culture-Based Methods, Shotgun Sequencing Reveal Transmission of Bifidobacterium Strains From Mothers to Infants

In a Nature Communications study, culture-based approaches along with shotgun sequencing give a better picture of the microbial strains transmitted from mothers to infants.

Microbial Communities Can Help Trees Adapt to Changing Climates

Tree seedlings that were inoculated with microbes from dry, warm, or cold sites could better survive drought, heat, and cold stress, according to a study in Science.

A Combination of Genetics and Environment Causes Cleft Lip

In a study published in Nature Communications, researchers investigate what combination of genetic and environmental factors come into play to cause cleft lip/palate.