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New Products: Sophia Genetics' CFTR Test


Sophia Genetics has launched a CE-IVD marked, next-generation sequencing-based cystic fibrosis test. According to the company, it has developed a statistical method that enables copy number detection, as well as a realignment algorithm to detect variants in the polyT and polyTG stretches of intron 8 and to distinguish between various combinations of repeat lengths, which enables the test to identify and characterize all types of variants in a single NGS run.

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.