Exploring the landscape of somatic mutations in normal tissue POL WGS

Study ID Alternative Stable ID Type
EGAS00001003682 Cancer Genomics

Study Description

Somatic mutations (burdens and signatures) and clonal dynamics in individuals with germline DNA polymerase mutations.

Study Datasets 2 datasets.

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Dataset ID Description Technology Samples
Mutation accumulation over time in normal somatic cells contributes to cancer development and is proposed as a cause of ageing. DNA polymerases POLE and POLD1 replicate DNA with high fidelity during normal cell divisions. However, in some cancers defective proofreading due to acquired mutations in the exonuclease domains of POLE or POLD1 causes markedly elevated somatic mutation burdens with distinctive mutational signatures. POLE and POLD1 exonuclease domain mutations also cause familial ... (Show More)
Illumina HiSeq 4000,Illumina NovaSeq 6000 211
This dataset contains 160 single-cell derived blood colonies from two neonates and 6 adults. It also contains 18 samples that were used as matched normals to call mutations in NanoSeq data (dataset EGAD00001006459).
HiSeq X Ten,Illumina NovaSeq 6000 13

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