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Investigating_the_clonal_dynamics_in_interstitial_lung_diseases_using_laser_captured_microdissection

This study aims to characterise the mutational landscape and identify driver mutations in interstitial lung diseases (ILDs) including idiopathic pulmonary fibrosis, secondary pulmonary fibrosis overlapping with autoimmune conditions as well as stage IV sarcoidosis. Here, we will perform laser-captured microdissection and generate whole genome sequencing data with fresh frozen bronchus and lung parenchymal tissues from patients with ILDs in order to better understand the driving force of these diseases.

Type: Whole Genome Sequencing
Archive: European Genome-phenome Archive (EGA)

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
EGAD00001016809	Mutations accumulate in normal human cells over the course of an individual’s lifetime. Early studies have shown differences in mutation rates and mutational signatures between cell types, but the range of tissues investigated has been constrained by limitations of DNA sequencing technologies. Here, we employ genome-wide NanoSeq single molecule duplex sequencing to survey the mutation landscapes of 53 normal cell types and tissue structures purified by laser-capture microdissection and flow sorting. Single base substitution mutation rates ranged from ~3/year in spermatogonia and sperm contributing to the male germline, to ~20/year in postmitotic neurons, ~50/year in mitotically active colorectal epithelial cells, ~60/year in kidney proximal tubule cells and hepatocytes, 100s/year in ultraviolet light exposed skin epidermis and from 10-50/year across the other cell types. At least 18 single base substitution and 9 small insertion and deletion mutational signatures contribute to mutation burdens, some to all cell types, some to subsets of cell types and others to a single cell type. Known exogenous mutagen exposures and endogenous mutational processes account for some mutational signatures but the origins and mechanisms underlying many are uncertain. This comprehensive survey of mutagenesis provides a foundation for understanding somatic evolution in human cell populations in health and disease.	HiSeq X Ten Illumina NovaSeq 6000	6