Peter J. Park

Feb 22, 2024 | nature.com | Jake Lee |Doga C. Gulhan |Sergey V. Venev |Eric Wooten |Kamila Naxerova |Job Dekker | +1 more

AbstractWhole chromosome and arm-level copy number alterations occur at high frequencies in tumors, but their selective advantages, if any, are poorly understood. Here, utilizing unbiased whole chromosome genetic screens combined with in vitro evolution to generate arm- and subarm-level events, we iteratively selected the fittest karyotypes from aneuploidized human renal and mammary epithelial cells.

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.