About file location

As the EGA is co-managed by the EMBL-EBI and CRG, files could be located in the UK and/or Spain, as indicated by their respective flags.

Alternatively, files could be located in one of the international Federated EGA nodes, as indicated next to the node's flag.
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Somatic mutation and selection at epidemiological scale - TwinsUK_TargetedEMSeq_Blood

Development of a targeted methylation assay to determine the cell-type composition of a sample. As we age, many tissues become colonised by microscopic clones carrying somatic driver mutations. Some of these clones represent a first step towards cancer whereas others may contribute to ageing and other diseases. However, our understanding of the clonal landscapes of human tissues, and their impact on cancer risk, ageing and disease, remains limited due to the challenge of detecting somatic mutations present in small numbers of cells. Here, we introduce a new version of nanorate sequencing (NanoSeq), a duplex sequencing method with error rates of less than 5 per billion base pairs, which is compatible with whole-exome and targeted gene sequencing. Deep sequencing of polyclonal samples with single-molecule sensitivity enables the simultaneous detection of mutations in large numbers of clones, yielding accurate somatic mutation rates, mutational signatures and driver mutation frequencies in any tissue. Applying targeted NanoSeq to 1,042 non-invasive samples of oral epithelium and 371 samples of blood from a twin cohort, we found an unprecedentedly rich landscape of selection, with 46 genes under positive selection driving clonal expansions in the oral epithelium, over 62,000 driver mutations, and evidence of negative selection in some genes. The high number of positively selected mutations in multiple genes provides high-resolution maps of selection across coding and non-coding sites, a form of in vivo saturation mutagenesis. Multivariate regression models enable mutational epidemiology studies on how carcinogenic exposures and cancer risk factors, such as age, tobacco or alcohol, alter the acquisition and selection of somatic mutations. Accurate single-molecule sequencing has the potential to unveil the polyclonal landscape of any tissue, providing a powerful tool to study early carcinogenesis, cancer prevention and the role of somatic mutations in ageing and disease.

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TwinsUK Resource Executive Committee (TREC) policy for data/material access of the Department of Twin Research at King's College London.

The Department of Twin Research in accordance with King’s College London policy will not be permitted to release new and /or identifiable data/material until a Material Transfer Agreement (MTA) has been finalized for identifiable material or a Data Transfer Agreement (DTA) has been finalized for new (non-identifiable) data.I.The data may only be used for non-commercial academic research. The data and the results of the research may not be used for commercial purposes unless a revenue-sharing agreement or commercial license is drafted and processed by King’s College London Business.II.No data will be passed to third parties without written permission from the Department of Twin Research.III.The data remains the property of King’s College London and if any new variables are derived from the data and /or any changes are made to the data, these will be returned to the Department of Twin Research upon acceptance for publication by a Journal or at the latest within six months from the end of the project, and any new variables derived from the data and/or changes made to the data shall be the property of King’s College London.IV.The Department of Twin Research and its funder’s contribution to this project will be acknowledged in any resulting publications or dissemination material.V.All manuscripts and drafts of oral presentations will be submitted to the Department of Twin Research for review and approval at least 15 days before submission or presentation. A final version of the manuscript and summary of any oral presentations will be sent to the department on final submission.VI.Authorship will be agreed by mutual consent. All publications will have to acknowledge the TwinsUK resource. Standard acknowledgements are available at http://www.twinsuk.ac.uk/data-access/VII.The identity of the twins should be protected at all times and no contact or tracing attempts will be made.

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
EGAS00001007202 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 Quality Report
Located in
i
EGAF00008738443 cram 563.7 MB
EGAF00008738444 cram 589.1 MB
EGAF00008738446 cram 462.2 MB
EGAF00008738448 cram 654.8 MB
EGAF00008738450 cram 572.1 MB
EGAF00008738452 cram 259.4 MB
EGAF00008738455 cram 485.4 MB
EGAF00008738457 cram 488.5 MB
EGAF00008738459 cram 479.4 MB
EGAF00008738461 cram 670.6 MB
EGAF00008738463 cram 465.6 MB
EGAF00008738465 cram 481.4 MB
EGAF00008738466 cram 524.9 MB
EGAF00008738468 cram 454.6 MB
EGAF00008738470 cram 781.7 MB
EGAF00008738472 cram 704.7 MB
EGAF00008738474 cram 682.8 MB
EGAF00008738477 cram 549.8 MB
EGAF00008738479 cram 536.5 MB
EGAF00008738481 cram 563.9 MB
EGAF00008738483 cram 584.7 MB
EGAF00008738485 cram 436.9 MB
EGAF00008738487 cram 434.9 MB
EGAF00008738488 cram 586.7 MB
EGAF00008738490 cram 465.1 MB
EGAF00008738492 cram 443.3 MB
EGAF00008738494 cram 447.3 MB
EGAF00008738496 cram 535.0 MB
EGAF00008738499 cram 536.8 MB
EGAF00008738501 cram 622.1 MB
EGAF00008738503 cram 560.6 MB
EGAF00008738505 cram 621.4 MB
EGAF00008738507 cram 568.4 MB
EGAF00008738509 cram 519.3 MB
EGAF00008738510 cram 601.6 MB
EGAF00008738512 cram 536.2 MB
EGAF00008738514 cram 598.3 MB
EGAF00008738516 cram 635.0 MB
EGAF00008738518 cram 552.6 MB
EGAF00008738521 cram 605.9 MB
EGAF00008738523 cram 597.3 MB
EGAF00008738525 cram 518.9 MB
EGAF00008738527 cram 506.8 MB
EGAF00008738529 cram 629.4 MB
EGAF00008738531 cram 566.8 MB
EGAF00008738532 cram 629.2 MB
EGAF00008738534 cram 577.5 MB
EGAF00008738536 cram 621.9 MB
EGAF00008738538 cram 561.0 MB
EGAF00008738540 cram 603.2 MB
EGAF00008738543 cram 713.6 MB
EGAF00008738545 cram 690.3 MB
EGAF00008738547 cram 549.6 MB
EGAF00008738549 cram 645.7 MB
EGAF00008738551 cram 521.9 MB
EGAF00008738553 cram 666.5 MB
EGAF00008738554 cram 483.8 MB
EGAF00008738555 cram 612.6 MB
EGAF00008738557 cram 480.6 MB
EGAF00008738559 cram 901.4 MB
EGAF00008738561 cram 578.7 MB
EGAF00008738563 cram 510.9 MB
EGAF00008738566 cram 462.1 MB
EGAF00008738568 cram 753.0 MB
EGAF00008738570 cram 448.8 MB
EGAF00008738572 cram 665.5 MB
EGAF00008738574 cram 466.3 MB
EGAF00008738576 cram 442.6 MB
EGAF00008738577 cram 644.9 MB
EGAF00008738579 cram 726.1 MB
EGAF00008738581 cram 703.0 MB
EGAF00008738583 cram 585.8 MB
EGAF00008738585 cram 580.3 MB
EGAF00008738588 cram 507.0 MB
EGAF00008738590 cram 713.3 MB
EGAF00008738592 cram 735.9 MB
EGAF00008738594 cram 640.5 MB
EGAF00008738596 cram 502.2 MB
EGAF00008738598 cram 580.5 MB
EGAF00008738599 cram 673.5 MB
EGAF00008738601 cram 550.1 MB
EGAF00008738603 cram 546.8 MB
EGAF00008738605 cram 548.2 MB
EGAF00008738607 cram 543.2 MB
EGAF00008738610 cram 544.0 MB
EGAF00008738612 cram 635.4 MB
EGAF00008738614 cram 627.2 MB
EGAF00008738616 cram 671.1 MB
EGAF00008738618 cram 532.9 MB
EGAF00008738620 cram 476.6 MB
EGAF00008738621 cram 620.9 MB
EGAF00008738623 cram 454.8 MB
EGAF00008738625 cram 582.2 MB
EGAF00008738627 cram 468.4 MB
EGAF00008738629 cram 512.2 MB
EGAF00008738632 cram 483.3 MB
EGAF00008738634 cram 774.0 MB
EGAF00008738636 cram 500.2 MB
EGAF00008738638 cram 621.4 MB
EGAF00008738640 cram 455.5 MB
EGAF00008738642 cram 620.1 MB
EGAF00008738643 cram 581.9 MB
EGAF00008738645 cram 570.8 MB
EGAF00008738647 cram 624.9 MB
EGAF00008738649 cram 515.1 MB
EGAF00008738651 cram 681.1 MB
EGAF00008738654 cram 478.7 MB
EGAF00008738656 cram 558.4 MB
EGAF00008738658 cram 576.4 MB
EGAF00008738660 cram 567.3 MB
EGAF00008738662 cram 604.2 MB
EGAF00008738665 cram 637.7 MB
EGAF00008738666 cram 558.1 MB
EGAF00008738668 cram 482.4 MB
EGAF00008738670 cram 652.2 MB
EGAF00008738672 cram 645.6 MB
EGAF00008738674 cram 622.8 MB
EGAF00008738677 cram 605.1 MB
EGAF00008738679 cram 656.4 MB
EGAF00008738681 cram 522.8 MB
EGAF00008738683 cram 536.2 MB
EGAF00008738685 cram 603.7 MB
EGAF00008738687 cram 568.5 MB
EGAF00008738688 cram 602.6 MB
EGAF00008738690 cram 583.8 MB
EGAF00008738692 cram 714.5 MB
EGAF00008738694 cram 433.5 MB
EGAF00008738696 cram 518.4 MB
EGAF00008738699 cram 577.1 MB
EGAF00008738701 cram 639.7 MB
EGAF00008738703 cram 570.5 MB
EGAF00008738705 cram 665.5 MB
EGAF00008738707 cram 554.0 MB
EGAF00008738709 cram 491.0 MB
EGAF00008738710 cram 531.5 MB
EGAF00008738712 cram 462.0 MB
EGAF00008738714 cram 566.4 MB
EGAF00008738716 cram 631.7 MB
EGAF00008738718 cram 648.5 MB
EGAF00008738721 cram 674.1 MB
EGAF00008738723 cram 539.2 MB
EGAF00008738725 cram 605.7 MB
EGAF00008738727 cram 559.1 MB
EGAF00008738729 cram 626.2 MB
EGAF00008738731 cram 549.0 MB
EGAF00008738732 cram 713.8 MB
EGAF00008738734 cram 506.7 MB
EGAF00008738736 cram 660.3 MB
EGAF00008738738 cram 613.3 MB
EGAF00008738740 cram 648.4 MB
EGAF00008738744 cram 619.6 MB
EGAF00008738747 cram 772.2 MB
EGAF00008738750 cram 619.8 MB
EGAF00008738751 cram 695.3 MB
EGAF00008738754 cram 389.9 MB
EGAF00008738756 cram 671.4 MB
EGAF00008738757 cram 651.1 MB
EGAF00008738759 cram 416.3 MB
EGAF00008738761 cram 485.9 MB
EGAF00008738763 cram 480.7 MB
EGAF00008738765 cram 530.8 MB
EGAF00008738768 cram 586.0 MB
EGAF00008738770 cram 537.9 MB
EGAF00008738772 cram 640.5 MB
EGAF00008738774 cram 598.6 MB
EGAF00008738776 cram 480.1 MB
EGAF00008738778 cram 556.1 MB
EGAF00008738779 cram 684.2 MB
EGAF00008738781 cram 668.8 MB
EGAF00008738783 cram 769.1 MB
EGAF00008738785 cram 669.3 MB
EGAF00008738787 cram 555.4 MB
EGAF00008738790 cram 513.0 MB
EGAF00008738792 cram 644.3 MB
EGAF00008738794 cram 513.3 MB
EGAF00008738796 cram 502.2 MB
EGAF00008738798 cram 481.8 MB
EGAF00008738800 cram 567.7 MB
EGAF00008738801 cram 623.9 MB
EGAF00008738803 cram 515.6 MB
EGAF00008738805 cram 707.0 MB
EGAF00008738807 cram 540.5 MB
EGAF00008738809 cram 575.9 MB
EGAF00008738812 cram 598.3 MB
EGAF00008738814 cram 504.1 MB
EGAF00008738816 cram 602.2 MB
EGAF00008738818 cram 786.2 MB
EGAF00008738820 cram 470.2 MB
188 Files (108.6 GB)