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We will use targeted exome sequencing to examine normal appearing oesophageal epithelium and skin to determine the mutational burden. DNA will be extracted from epithelia of a defined size and we will overlay positional information from the epithelial pieces to give clone maps over a wide area. This will be done in both oesophageal epithelium and skin

Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data

Dataset ID Description Technology Samples
EGAD00001004158 Illumina HiSeq 2500 -
EGAD00001006194 HiSeq X Ten Illumina HiSeq 2500 Illumina NovaSeq 6000 805
EGAD00001006969 Illumina HiSeq 2500 -
Publications Citations
Somatic mutant clones colonize the human esophagus with age.
Science 362: 2018 911-917
Measuring the distribution of fitness effects in somatic evolution by combining clonal dynamics with dN/dS ratios.
Elife 9: 2020 e48714
Selection of Oncogenic Mutant Clones in Normal Human Skin Varies with Body Site.
Cancer Discov 11: 2021 340-361
Notch1 mutations drive clonal expansion in normal esophageal epithelium but impair tumor growth.
Nat Genet 55: 2023 232-245
Measures of genetic diversification in somatic tissues at bulk and single-cell resolution.
Elife 12: 2024 RP89780