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Genomic characterisation of SDH deficient renal cell carcinoma - WGS

SDH deficient renal cell carcinomas are a rare and recently defined subtype of kidney cancer, often associated with an inherited mutation in one of the SDH gene subunits. This dataset sought to understand the genomic events that underpin tumour formation, from putative cell of origin, characterisation of the tumour microenvironment, to the genomic evolution of these rare tumours. We performed whole genome and RNA sequencing of 4 patients with SDH deficient renal cell carcinomas, including one patient who had an additional paraganglioma. An addition patient in this cohort had the initial diagnosis revised to a clear cell renal cell carcinoma.

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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
EGAS00001004102 Other

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
EGAF00005765543 cram 19.6 GB
EGAF00005765544 cram 15.9 GB
EGAF00005765545 cram 17.6 GB
EGAF00005765546 cram 16.5 GB
EGAF00005765547 cram 18.6 GB
EGAF00005765548 cram 16.9 GB
EGAF00005765549 cram 14.9 GB
EGAF00005765550 cram 14.1 GB
EGAF00005765551 cram 13.8 GB
EGAF00005765552 cram 19.3 GB
EGAF00005765553 cram 15.7 GB
EGAF00005765554 cram 17.5 GB
EGAF00005765555 cram 16.4 GB
EGAF00005765556 cram 18.3 GB
EGAF00005765557 cram 16.7 GB
EGAF00005765558 cram 14.8 GB
EGAF00005765559 cram 14.0 GB
EGAF00005765560 cram 13.7 GB
EGAF00005765561 cram 19.1 GB
EGAF00005765562 cram 15.5 GB
EGAF00005765563 cram 17.2 GB
EGAF00005765564 cram 16.2 GB
EGAF00005765565 cram 18.2 GB
EGAF00005765566 cram 16.6 GB
EGAF00005765567 cram 14.7 GB
EGAF00005765568 cram 13.9 GB
EGAF00005765569 cram 13.5 GB
EGAF00005765570 cram 47.8 GB
EGAF00005765571 cram 21.3 GB
EGAF00005765572 cram 22.5 GB
EGAF00005765573 cram 22.5 GB
EGAF00005765574 cram 24.5 GB
EGAF00005765575 cram 25.7 GB
33 Files (603.4 GB)