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Showing 1–2 of 2 results
Advanced filters: Author: Andrew Marcel Pregnall Clear advanced filters

  • This paper describes a framework for classifying small insertions and deletions from genomic data and applies it to a large dataset comprising seven tumor types. The analysis highlights new insertion and deletion signatures and a classifier of postreplicative repair dysfunction.

    • Gene Ching Chiek Koh
    • Arjun Scott Nanda
    • Serena Nik-Zainal
    ResearchOpen Access
    Nature Genetics
    Volume: 57, P: 1132-1141

  • The chemotherapeutic agent CX-5461 is shown to be a potent mutagen in hTERT-RPE1, HAP1 and human induced pluripotent stem cells. The compound generates distinct mutational patterns of single- and double-base substitutions, as well as of small insertions and deletions, that were detectable following a single exposure.

    • Gene Ching Chiek Koh
    • Soraya Boushaki
    • Serena Nik-Zainal
    ResearchOpen Access
    Nature Genetics
    Volume: 56, P: 23-26