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Investigation of mutational signatures associated with DNMT3A deficiency (2019-04-03)

Mutational signatures have been shown to be attributable to specific genetic contexts, such as mutations in DNA repair genes. DNMT3A is a DNA methyltransferase that helps maintain the DNA methylation pattern in a site-specific manner and may participate in DNA repair or the stress response. We have identified an adult individual who is a germline mosaic for a DNMT3A mutation. We have obtained clonal lymphoblastoid cells (LCLs) from the subject representing both WT and mutant lines grown in the same individual for >50 years. These clones represent a unique opportunity to examine the mutational impact of the DNMT3A mutation in a well-controlled setting. Our goal is to perform WGS on whole blood, representing the pool, as well as several WT and several mutant clones, in order to investigate the contribution of DNMT3A to mutation rates and signatures. . This dataset contains all the data available for this study on 2019-04-03.

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Studies are experimental investigations of a particular phenomenon, e.g., case-control studies on a particular trait or cancer research projects reporting matching cancer normal genomes from patients.

Study ID Study Title Study Type
EGAS00001002329 Cancer Genomics

This table displays only public information pertaining to the files in the dataset. If you wish to access this dataset, please submit a request. If you already have access to these data files, please consult the download documentation.

ID File Type Size Located in
EGAF00002038836 cram 3.7 GB
EGAF00002038837 cram 3.6 GB
EGAF00002038838 cram 4.1 GB
EGAF00002038839 cram 3.9 GB
EGAF00002038840 cram 4.0 GB
EGAF00002038841 cram 3.8 GB
EGAF00002038842 cram 3.8 GB
EGAF00002038843 cram 4.0 GB
EGAF00002038844 cram 4.1 GB
EGAF00002038845 cram 3.8 GB
EGAF00002038846 cram 3.7 GB
EGAF00002038847 cram 4.2 GB
EGAF00002038848 cram 4.1 GB
EGAF00002038849 cram 4.1 GB
EGAF00002038850 cram 3.9 GB
EGAF00002039083 cram 4.0 GB
EGAF00002039084 cram 4.1 GB
EGAF00002039085 cram 4.2 GB
EGAF00002039086 cram 3.9 GB
EGAF00002039087 cram 3.8 GB
EGAF00002039088 cram 4.3 GB
EGAF00002039089 cram 4.1 GB
EGAF00002039090 cram 4.2 GB
EGAF00002039091 cram 4.0 GB
EGAF00002039092 cram 4.0 GB
EGAF00002039093 cram 4.2 GB
EGAF00002039094 cram 4.3 GB
EGAF00002039095 cram 3.8 GB
EGAF00002039096 cram 3.7 GB
EGAF00002039097 cram 4.2 GB
EGAF00002039098 cram 4.1 GB
EGAF00002039099 cram 4.1 GB
EGAF00002039100 cram 3.9 GB
EGAF00002039101 cram 3.9 GB
EGAF00002039102 cram 4.1 GB
EGAF00002039103 cram 4.2 GB
EGAF00002039104 cram 3.9 GB
EGAF00002039105 cram 3.8 GB
EGAF00002039106 cram 4.3 GB
EGAF00002039107 cram 4.1 GB
EGAF00002039108 cram 4.2 GB
EGAF00002039109 cram 4.0 GB
EGAF00002039110 cram 4.0 GB
EGAF00002039111 cram 4.2 GB
EGAF00002039344 cram 4.3 GB
EGAF00002039345 cram 3.9 GB
EGAF00002039346 cram 3.8 GB
EGAF00002039347 cram 4.3 GB
EGAF00002039348 cram 4.1 GB
EGAF00002039349 cram 4.1 GB
EGAF00002039350 cram 4.0 GB
EGAF00002039351 cram 4.0 GB
EGAF00002039352 cram 4.2 GB
EGAF00002039353 cram 4.3 GB
EGAF00002039354 cram 3.8 GB
EGAF00002039355 cram 3.8 GB
EGAF00002039356 cram 4.3 GB
EGAF00002039357 cram 4.1 GB
EGAF00002039358 cram 4.2 GB
EGAF00002039359 cram 4.0 GB
EGAF00002039360 cram 4.0 GB
EGAF00002039361 cram 4.2 GB
EGAF00002039362 cram 4.3 GB
EGAF00002039363 cram 3.7 GB
EGAF00002039364 cram 3.6 GB
EGAF00002039365 cram 4.1 GB
EGAF00002039366 cram 4.0 GB
EGAF00002039367 cram 4.0 GB
EGAF00002039368 cram 3.9 GB
EGAF00002039369 cram 3.9 GB
EGAF00002039370 cram 4.0 GB
EGAF00002039371 cram 4.1 GB
EGAF00002044051 cram 4.1 GB
EGAF00002044052 cram 4.0 GB
EGAF00002044053 cram 4.5 GB
EGAF00002044054 cram 4.3 GB
EGAF00002044055 cram 4.4 GB
EGAF00002044056 cram 4.2 GB
EGAF00002044057 cram 4.2 GB
EGAF00002044058 cram 4.4 GB
EGAF00002044059 cram 4.5 GB
81 Files (327.8 GB)