Study

Exploring the landscape of somatic mutations in normal tissue POL TGS

Study ID Alternative Stable ID Type
EGAS00001003754 Other

Study Description

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

Study Datasets 1 dataset.

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
EGAD00001006212
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

Who archives the data?

There are no publications available