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Significance “Rare somatic mutations” are present in a small fraction of DNA molecules at as low as one in 107 to 108 bp in normal tissues, and are extremely difficult… Click to show full abstract
Significance “Rare somatic mutations” are present in a small fraction of DNA molecules at as low as one in 107 to 108 bp in normal tissues, and are extremely difficult to detect. EcoSeq was developed here by introducing a strong genome size reduction into duplex sequencing, and had a high efficiency, in addition to high sensitivity and accuracy. Accordingly, EcoSeq revealed that high levels of somatic mutations were accumulated in normal-appearing blood cells, a surrogate for bone marrow stem cells, of pediatric sarcoma patients with prior chemotherapy. EcoSeq is capable of analyzing DNA samples potentially accumulating somatic mutations, such as tissues exposed to inflammation, smoking, and extreme cell turnover, and will enable assessment of past exposure and future cancer risk.
Journal Title: Proceedings of the National Academy of Sciences of the United States of America
Year Published: 2022
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