Maria Eleni Kastriti

Oct 30, 2023 | nature.com | Teng Gao |Maria Eleni Kastriti |Po-Ru Loh |Peter J. Park

AbstractGenetic mutations accumulate in an organism’s body throughout its lifetime. While somatic single-nucleotide variants have been well characterized in the human body, the patterns and consequences of large chromosomal alterations in normal tissues remain largely unknown. Here, we present a pan-tissue survey of mosaic chromosomal alterations (mCAs) in 948 healthy individuals from the Genotype-Tissue Expression project, augmenting RNA-based allelic imbalance estimation with haplotype phasing.