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Inherited MUTYH mutations cause elevated somatic mutation rates and distinctive mutational signatures in normal human cells

Cellular DNA damage caused by reactive oxygen species is repaired by the base excision repair (BER) pathway which includes the DNA glycosylase MUTYH. Inherited biallelic MUTYH mutations cause predisposition to colorectal adenomas and carcinoma. However, the mechanistic progression from germline MUTYH mutations to MUTYH-Associated Polyposis (MAP) is incompletely understood. Here, we sequenced normal cell DNAs from 10 individuals with MAP and study the somatic mutation burden and mutational signatures.

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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
EGAS00001004066 Cancer Genomics
EGAS00001004122 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 Quality Report
Located in
EGAF00005343657 cram 3.6 GB Report
EGAF00005343658 cram 3.6 GB Report
EGAF00005343684 cram 3.5 GB Report
EGAF00005343685 cram 3.6 GB Report
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EGAF00005343749 cram 2.9 GB Report
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EGAF00005401137 cram 25.9 GB Report
EGAF00005401138 cram 28.4 GB Report
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EGAF00005401317 cram 12.4 GB Report
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EGAF00005401335 cram 2.2 GB Report
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EGAF00005401340 cram 2.6 GB Report
EGAF00005401341 cram 1.7 GB Report
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EGAF00005401347 cram 1.9 GB Report
EGAF00005401348 cram 1.9 GB Report
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EGAF00005401350 cram 1.9 GB Report
EGAF00005401351 cram 1.8 GB Report
EGAF00005401352 cram 2.5 GB Report
EGAF00005401353 cram 3.1 GB Report
EGAF00005401354 cram 2.1 GB Report
EGAF00005401355 cram 1.9 GB Report
EGAF00005401356 cram 1.8 GB Report
EGAF00005401357 cram 2.4 GB Report
EGAF00005401358 cram 2.4 GB Report
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EGAF00005401361 cram 1.6 GB Report
EGAF00005401362 cram 2.2 GB Report
EGAF00005401363 cram 1.6 GB Report
EGAF00005401364 cram 1.9 GB Report
EGAF00005401365 cram 3.2 GB Report
EGAF00005401366 cram 1.9 GB Report
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EGAF00005401368 cram 1.8 GB Report
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EGAF00005401370 cram 2.1 GB Report
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EGAF00005401375 cram 1.8 GB Report
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EGAF00005401384 cram 2.1 GB Report
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EGAF00005401386 cram 2.5 GB Report
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EGAF00005401400 cram 2.2 GB Report
EGAF00005401401 cram 2.7 GB Report
EGAF00005401402 cram 2.2 GB Report
EGAF00005401403 cram 11.0 GB Report
EGAF00005401404 cram 2.1 GB Report
EGAF00005401405 cram 2.3 GB Report
EGAF00005401406 cram 2.2 GB Report
EGAF00005401407 cram 1.9 GB Report
EGAF00005401408 cram 2.5 GB Report
EGAF00005401409 cram 2.4 GB Report
EGAF00005401410 cram 2.3 GB Report
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EGAF00005401412 cram 2.4 GB Report
EGAF00005401413 cram 2.1 GB Report
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EGAF00005401415 cram 2.3 GB Report
EGAF00005401416 cram 2.7 GB Report
EGAF00005401417 cram 2.1 GB Report
EGAF00005401418 cram 2.7 GB Report
EGAF00005401419 cram 2.9 GB Report
EGAF00005401420 cram 2.4 GB Report
EGAF00005401421 cram 2.5 GB Report
EGAF00005401422 cram 2.8 GB Report
EGAF00005401423 cram 2.7 GB Report
EGAF00005401424 cram 2.3 GB Report
EGAF00005401425 cram 2.6 GB Report
EGAF00005401426 cram 2.6 GB Report
EGAF00005401427 cram 2.6 GB Report
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EGAF00005401429 cram 1.9 GB Report
EGAF00005401430 cram 2.4 GB Report
EGAF00005401431 cram 2.4 GB Report
EGAF00005401432 cram 2.0 GB Report
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EGAF00005401434 cram 2.3 GB Report
EGAF00005401435 cram 2.3 GB Report
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EGAF00005401438 cram 2.8 GB Report
EGAF00005401439 cram 2.5 GB Report
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EGAF00005401455 cram 2.2 GB Report
EGAF00005401456 cram 11.2 GB Report
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EGAF00005401502 cram 2.7 GB Report
EGAF00005401503 cram 2.5 GB Report
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EGAF00005401508 cram 2.3 GB Report
EGAF00005401509 cram 11.5 GB Report
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EGAF00005401548 cram 7.7 GB Report
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EGAF00005401553 cram 5.5 GB Report
EGAF00005401554 cram 7.6 GB Report
EGAF00005401555 cram 5.8 GB Report
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EGAF00005401559 cram 6.9 GB Report
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EGAF00005401562 cram 6.9 GB Report
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EGAF00005401566 cram 4.6 GB Report
EGAF00005401567 cram 5.7 GB Report
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EGAF00005401571 cram 8.1 GB Report
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EGAF00005401586 cram 5.7 GB Report
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EGAF00005401597 cram 6.3 GB Report
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EGAF00005401599 cram 5.7 GB Report
EGAF00005401600 cram 7.9 GB Report
EGAF00005401601 cram 6.0 GB Report
EGAF00005401602 cram 6.0 GB Report
EGAF00005401603 cram 7.3 GB Report
EGAF00005401604 cram 4.8 GB Report
EGAF00005401605 cram 7.2 GB Report
EGAF00005401606 cram 5.6 GB Report
EGAF00005401607 cram 5.4 GB Report
EGAF00005401608 cram 7.1 GB Report
EGAF00005401609 cram 5.6 GB Report
EGAF00005401610 cram 8.2 GB Report
EGAF00005401611 cram 16.4 GB Report
EGAF00005401612 cram 17.4 GB Report
EGAF00005401613 cram 10.5 GB Report
EGAF00005401614 cram 13.1 GB Report
EGAF00005401615 cram 12.5 GB Report
EGAF00005401616 cram 11.7 GB Report
EGAF00005401617 cram 12.4 GB Report
EGAF00005401618 cram 10.5 GB Report
EGAF00005401619 cram 10.5 GB Report
EGAF00005401620 cram 12.7 GB Report
EGAF00005401621 cram 11.9 GB Report
EGAF00005401622 cram 16.7 GB Report
EGAF00005401623 cram 17.7 GB Report
EGAF00005401624 cram 10.7 GB Report
EGAF00005401625 cram 13.3 GB Report
EGAF00005401626 cram 12.7 GB Report
EGAF00005401627 cram 11.9 GB Report
EGAF00005401628 cram 12.6 GB Report
EGAF00005401629 cram 10.8 GB Report
EGAF00005401630 cram 10.7 GB Report
EGAF00005401631 cram 12.9 GB Report
EGAF00005401632 cram 12.1 GB Report
EGAF00005401633 cram 12.2 GB Report
EGAF00005401634 cram 21.9 GB Report
EGAF00005401635 cram 15.3 GB Report
EGAF00005401636 cram 17.1 GB Report
EGAF00005401637 cram 15.4 GB Report
EGAF00005401638 cram 17.2 GB Report
EGAF00005401639 cram 14.5 GB Report
EGAF00005401640 cram 70.4 GB Report
EGAF00005401641 cram 16.5 GB Report
EGAF00005401642 cram 13.8 GB Report
EGAF00005401643 cram 15.4 GB Report
EGAF00005401644 cram 18.8 GB Report
EGAF00005401645 cram 50.8 GB Report
EGAF00005401646 cram 15.9 GB Report
EGAF00005401647 cram 19.1 GB Report
EGAF00005401648 cram 16.2 GB Report
EGAF00005401649 cram 14.6 GB Report
EGAF00005401650 cram 14.7 GB Report
EGAF00005401651 cram 15.8 GB Report
EGAF00005401652 cram 17.7 GB Report
EGAF00005401653 cram 19.0 GB Report
EGAF00005401654 cram 20.0 GB Report
EGAF00005401655 cram 22.3 GB Report
EGAF00005401656 cram 24.3 GB Report
EGAF00005401657 cram 18.8 GB Report
EGAF00005401658 cram 19.8 GB Report
EGAF00005401659 cram 31.6 GB Report
EGAF00005401660 cram 28.0 GB Report
EGAF00005401661 cram 17.1 GB Report
EGAF00005401662 cram 11.6 GB Report
EGAF00005401663 cram 14.0 GB Report
EGAF00005401664 cram 22.6 GB Report
EGAF00005401665 cram 23.0 GB Report
EGAF00005401666 cram 16.2 GB Report
EGAF00005401667 cram 15.8 GB Report
EGAF00005401668 cram 14.4 GB Report
EGAF00005401669 cram 31.7 GB Report
EGAF00005401670 cram 26.4 GB Report
EGAF00005401671 cram 24.6 GB Report
EGAF00005401672 cram 21.6 GB Report
EGAF00005401673 cram 25.4 GB Report
EGAF00005401674 cram 19.5 GB Report
EGAF00005401675 cram 15.7 GB Report
EGAF00005401676 cram 15.6 GB Report
EGAF00005401677 cram 24.7 GB Report
EGAF00005401678 cram 21.3 GB Report
EGAF00005401679 cram 18.6 GB Report
EGAF00005401680 cram 18.8 GB Report
EGAF00005401681 cram 15.5 GB Report
EGAF00005401682 cram 14.8 GB Report
EGAF00005401683 cram 11.9 GB Report
EGAF00005401684 cram 12.0 GB Report
EGAF00005401685 cram 14.1 GB Report
EGAF00005401686 cram 13.1 GB Report
EGAF00005401687 cram 15.3 GB Report
EGAF00005401688 cram 12.6 GB Report
EGAF00005401689 cram 11.6 GB Report
EGAF00005401690 cram 11.9 GB Report
EGAF00005401691 cram 16.3 GB Report
EGAF00005401692 cram 13.4 GB Report
EGAF00005407348 cram 3.0 GB Report
EGAF00005407349 cram 3.1 GB Report
584 Files (4.3 TB)