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This work establishes a framework and best practices for reliably detecting low-VAF mutations in non-cancer tissues and provides a valuable resource for the community.
The findings show that the pervasive effects of human neuronal aging might be linked to the authors' long lifespan and are therefore not evident in animal models.
It is demonstrated that rare germline TE insertions in cancer predisposition genes can have functional consequences at the RNA level, and incorporating TE detection into genomic workflows may improve identification of cancer predisposition syndromes and expand understanding of noncoding contributions to pediatric cance...
The first integrated analysis of the Somatic Mosaicism across Human Tissues (SMaHT) Network’s production resource is presented, profiling up to 20 tissues from 25 donors using short- and long-read, duplex, single-cell, transcriptomic, and epigenomic sequencing, alongside donor-specific near-telomere-to-telomere assembl...
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