Iñigo Martincorena

Feb 23, 2024 | nature.com | Michael Chapman |Iñigo Martincorena |Jyoti Nangalia

AbstractPhylogenetic trees are a powerful means to display the evolutionary history of species, pathogens and, more recently, individual cells of the human body. Whole-genome sequencing of laser capture microdissections or expanded stem cells has allowed the discovery of somatic mutations in clones, which can be used as natural barcodes to reconstruct the developmental history of individual cells. Here we describe Sequoia, our pipeline to reconstruct lineage trees from clones of normal cells.

Oct 26, 2023 | nature.com | Elke Rodríguez |Andrew Lawson |Federico Abascal |Philip Jones |Iñigo Martincorena |Peter Campbell

AbstractSomatic mutations are hypothesized to play a role in many non-neoplastic diseases. We performed whole-exome sequencing of 1,182 microbiopsies dissected from lesional and nonlesional epidermis from 111 patients with psoriasis to search for evidence that somatic mutations in keratinocytes may influence the disease process. Lesional skin remained highly polyclonal, showing no evidence of large-scale spread of clones carrying potentially pathogenic mutations.