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Somatic Mutation Mosaicism Profiled Across Human Development

In PLOS Genetics, researchers at Yonsei University College of Medicine, the Korea Advanced Institute of Science and Technology, and other centers track low-level somatic mosaicism across human development stages and tissue types, distinguishing between mosaic events occurring earlier or later in the developmental process. Using deep exome sequencing, the team profiled somatic mutation patterns in almost 500 organ tissue samples from 190 individuals, uncovering distinct mosaic numbers, allele frequency patterns, and mutational signatures in early or late clone-forming mosaic mutations. "Compared with early clone-forming mutations that showed a clock-like signature across all organs or tissues studied, late clone-forming mutations showed organ, tissue, and cell-type specificity in the mutation counts, [variant allele frequency], and mutational signatures," the authors report, noting that "analysis of brain somatic mutations showed a bimodal occurrence and temporal lobe-specific signature.

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.