Human brain aging is frequently studied in model mammals that rarely show the natural age-related neurodegenerative conditions that afflict humans, yet little is known about how genomic stability compares across species during aging. Although somatic single nucleotide variant (SNV) and short insertion/deletion (Indel)...
Emre Caglayan, Ishaan Lamba, Monica Manam Devi et al.· bioRxiv· 0 citations
Abstract At least 10 to 15% of children with cancer have a pathogenic germline variant in a cancer predisposition gene. Studies of germline cancer predisposition, however, have focused primarily on single-nucleotide and copy-number variants, leaving other classes such as transposable elements (TE) largely unexplored. A...
Corinne E. Sexton, Kayla V. Hamilton, Chong Chu et al.· Cancer Research Communicatio...· 0 citations
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...
F. Sedlazeck, Tim H. H. Coorens, Peter J. Park et al.· bioRxiv· 0 citations
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