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.

Mar 21, 2023 | nature.com | Isidro Cortes-Ciriano |Jake Lee |Ruibin Xi |Dmitry Gordenin |Leszek J. Klimczak |Cheng-Zhong Zhang | +2 more

Author notesIsidro Cortés-CirianoPresent address: European Molecular Biology Laboratory, European Bioinformatics Institute (EMBL-EBI), Cambridge, UKA list of authors and their affiliations appears at the end of the paper. A list of authors and their affiliations appears online. Authors and AffiliationsDepartment of Biomedical Informatics, Harvard Medical School, Boston, MA, USAIsidro Cortés-Ciriano, Jake June-Koo Lee, Dhawal Jain, Youngsook L. Jung, Isidro Cortés-Ciriano & Peter J.