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Science Papers on Heterogeneity of Human Bladder, Goals of the Global Genomic Medicine Collaborative

A study revealing widespread heterogeneity in somatic mutation and clonal selection in the human bladder is published in Science this week. Researchers from the Wellcome Sanger Institute performed targeted, whole-exome, or whole-genome sequencing on 2,097 healthy and diseased bladder microbiopsies from 20 individuals and discovered widespread positive selection in 17 genes. They also find evidence of extensive APOBEC mutagenesis, as well as large differences in mutation burden, signatures, and selection across clones and individuals that likely reflect the interplay between genetics and a lifetime of different exposures. "Although somatic mutations have traditionally been studied in the context of cancer, the growing realization that some human tissues become colonized by mutant clones throughout life raises questions about their potential impact in aging and other diseases," the study's authors write. "The study of somatic mutations associated with histological changes … could shed light on somatic evolution in cancer, aging, and nonmalignant disease." GenomeWeb has more on this study, here.

Members of the Global Genomic Medicine Collaborative (G2MC) discuss the initiative's mission in an editorial in Science Translational Medicine this week. The G2MC was founded in 2016 by leaders in genomic medicine from 25 different countries to catalog and facilitate collaboration between the various genomic medicine research programs underway around the world. Since then, it has generated publicly available overviews of 65 such programs while categorizing the policy issues at play in each. The G2MC's efforts demonstrate "the ongoing need for global collaboration and communication as genomic technologies become a growing component of health care worldwide," they write.