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Whole Human Genome Sequencing Project

Introduction

We have sequenced the CEPH1463 (NA12878/GM12878, Ceph/Utah pedigree) human genome reference standard on the Oxford Nanopore MinION using 1D ligation kits (450 bp/s) using R9.4 chemistry (FLO-MIN106).

Human genomic DNA from GM12878 human cell line (Ceph/Utah pedigree) was either purchased from Coriell - "DNA" - (cat no NA12878) or extracted from the cultured cell line - "cells". As the DNA is native, modified bases will be preserved.

Data reuse and license

We encourage the reuse of this data in your own analysis and publications which is released under the Creative Commons CC-BY license. Therefore we would be grateful if you would cite the reference below if you do.

Citation

Miten Jain, Sergey Koren, Karen H Miga, Josh Quick, Arthur C Rand, Thomas A Sasani, John R Tyson, Andrew D Beggs, Alexander T Dilthey, Ian T Fiddes, Sunir Malla, Hannah Marriott, Tom Nieto, Justin O'Grady, Hugh E Olsen, Brent S Pedersen, Arang Rhie, Hollian Richardson, Aaron R Quinlan, Terrance P Snutch, Louise Tee, Benedict Paten, Adam M Phillippy, Jared T Simpson, Nicholas J Loman & Matthew Loose. Nanopore sequencing and assembly of a human genome with ultra-long reads. Nature Biotechnology doi: doi:10.1038/nbt.4060.

rel7 (genomic DNA)

In May 2021, Oxford Nanopore Technologies released Guppy 5 which incorporates bonito's CRF models and yields accuracy improvements. We have now updated the data set to include those latest improvements.

We are releasing rel7 as a significant update and recommend that this new data set be used for analysis.

FASTQ Data (gz) from the entire rel7 dataset is available here: FASTQ

A sequencing summary file for the entire dataset is available here: Sequencing Summary

rel6 (genomic DNA)

Since the initial release Guppy basecalling improvements continued as well as optimisations in file formats (the introduction of mutifast5 files ). To this end, we updated the data set to incorporate the latest basecalling improvements as well as file formats.

Earlier releases should now be considered deprecated and not representative of the current state-of-the-art for nanopore sequencing.

We consider rel6 to be a significant update and so are also releasing these data as we did the original rel3&4 data flowcell by flowcell.

Reference assemblies from Adam Phillippy and Sergey Koren will be available shortly.

The total dataset is now:

  • 53 flowcells
  • 132,931,102,331 bases
  • 15,666,888 reads

The multi fast5 files are 4.5 Tb in size.

Data were basecalled using:

  • Guppy Version: ONT Guppy basecalling software version 2.3.8+498297c
  • config file: dna_r9.4.1_450bps_flipflop.cfg
  • model file: template_r9.4.1_450bps_large_flipflop.jsn

Note: One run (FAB23716) generated using R9 has currently failed rebasecalling.

Multi Fast5 Files

For forward compatibility, the raw signal data has been repackaged into Multi fast5 files using the single_to_multi command from the ONT Fast5 API.

This has resulted in a significant decrease in file size for this collection as these files no longer contain events. Thus these tar files are now only 4.5 Tb in total. These files have not yet been compressed with Nanopore's new compression algorithms. We will provide this soon.

To obtain the whole set of fast5 files we recommend using the aws client and obtaining all the data from s3://nanopore-human-wgs/rel6/MultiFast5Tars/

aws s3 cp s3://nanopore-human-wgs/rel6/MultiFast5Tars/ <<TARGET>>

Individual flowcells worth of Fast5 data can be downloaded below.

Whole Dataset

FASTQ Data (gz) from the entire rel6 dataset is available here (131 Gb): FASTQ

A sequencing summary file for the entire dataset is available here (1.1 Gb): Sequencing Summary

Individual Flowcells of data can be downloaded below. These are complete with sequencing summary files and guppy logs. FASTQ files are gzipped within the tar files.

The entire set of FASTQ tar data can be downloaded by using the aws client and downloading from s3://nanopore-human-wgs/rel6/FASTQTars/

aws s3 cp s3://nanopore-human-wgs/rel6/FASTQTars/ <<TARGET>>

Rel6 Data

flowcell_id ASIC_id Links (Fastq/Fast5) reads bases Mean N50 Date Centre SampleType Kit Pore
FAB23716* N/A Data Not Available N/A N/A N/A N/A 14/07/2016 UBC DNA Rapid R9
FAB39088 288418386 FASTQ/FAST5 668,016 3,929,822,468 5,883 11,218 19/09/2016 Notts DNA Ligation R9.4
FAB39075 4246400039 FASTQ/FAST5 477,495 3,014,355,946 6,313 13,297 20/09/2016 UBC DNA Ligation R9.4
FAB39043 3709921973 FASTQ/FAST5 442,132 2,574,202,451 5,822 11,141 23/09/2016 Bham DNA Ligation R9.4
FAB42706 4111103328 FASTQ/FAST5 431,694 2,434,471,643 5,639 9,708 12/10/2016 UBC DNA Ligation R9.4
FAB41174 3976885577 FASTQ/FAST5 117,140 739,850,920 6,316 8,010 13/10/2016 Bham DNA Ligation R9.4
FAB42260 4177064552 FASTQ/FAST5 269,507 1,583,530,766 5,876 10,022 13/10/2016 UBC DNA Ligation R9.4
FAB42804 84744914 FASTQ/FAST5 16,688 91,150,705 5,462 7,427 14/10/2016 Bham DNA Ligation R9.4
FAB42316 216722908 FASTQ/FAST5 573,736 4,047,383,848 7,054 8,493 14/10/2016 Notts DNA Ligation R9.4
FAB42205 3573838535 FASTQ/FAST5 318,133 2,076,803,569 6,528 10,955 14/10/2016 Notts DNA Ligation R9.4
FAB42561 356443753 FASTQ/FAST5 234,228 1,693,451,959 7,230 12,074 19/10/2016 Notts DNA Ligation R9.4
FAB42473 4179682758 FASTQ/FAST5 646,945 3,794,243,146 5,865 10,316 19/10/2016 UBC DNA Ligation R9.4
FAB42395 4178605061 FASTQ/FAST5 38,335 200,553,219 5,232 10,952 20/10/2016 Norwich DNA Ligation R9.4
FAB42476 3843483077 FASTQ/FAST5 435,934 2,655,496,773 6,092 10,492 27/10/2016 UBC DNA Ligation R9.4
FAB42451 4239353418 FASTQ/FAST5 818,420 5,228,838,859 6,389 10,490 28/10/2016 Notts DNA Ligation R9.4
FAB42704 87746129 FASTQ/FAST5 276,653 2,015,520,974 7,285 11,804 28/10/2016 UBC DNA Ligation R9.4
FAB42828 288548394 FASTQ/FAST5 33,633 206,649,131 6,144 12,406 01/11/2016 Norwich DNA Ligation R9.4
FAB42810 352384898 FASTQ/FAST5 322,286 2,433,213,020 7,550 12,796 02/11/2016 Norwich DNA Ligation R9.4
FAB42798 3306352129 FASTQ/FAST5 193,679 1,543,052,592 7,967 13,046 03/11/2016 Norwich DNA Ligation R9.4
FAB45280 222619780 FASTQ/FAST5 128,314 895,679,449 6,980 11,404 11/11/2016 Norwich DNA Ligation R9.4
FAB46664 288286712 FASTQ/FAST5 491,945 2,335,386,447 4,747 8,819 15/11/2016 UBC DNA Ligation R9.4
FAB46683 4246923067 FASTQ/FAST5 72,713 447,658,919 6,157 12,183 17/11/2016 Bham DNA Ligation R9.4
FAB45332 551111640 FASTQ/FAST5 531,764 3,267,600,534 6,145 10,885 17/11/2016 UBC DNA Ligation R9.4
FAB43577 3574887596 FASTQ/FAST5 427,215 2,776,702,333 6,500 9,125 18/11/2016 UCSC DNA Ligation R9.4
FAB44989 2567311907 FASTQ/FAST5 558,539 3,962,530,064 7,095 9,747 18/11/2016 UCSC DNA Ligation R9.4
FAF01169 4245879798 FASTQ/FAST5 339,948 3,196,399,021 9,403 13,852 22/11/2016 Bham Cells Ligation R9.4
FAF01441 3910073345 FASTQ/FAST5 255,326 2,457,162,654 9,624 13,926 22/11/2016 Bham Cells Ligation R9.4
FAB45277 86567043 FASTQ/FAST5 336,653 3,287,605,917 9,766 14,002 22/11/2016 Notts Cells Ligation R9.4
FAB45321** 19064779 FASTQ/FAST5 299,306 2,817,977,026 9,415 13,594 22/11/2016 Notts Cells Ligation R9.4
FAF01127 353303576 FASTQ/FAST5 633,129 5,441,337,578 8,594 12,847 25/11/2016 Bham Cells Ligation R9.4
FAF01132 84868110 FASTQ/FAST5 719,983 6,269,018,010 8,707 12,999 25/11/2016 Bham Cells Ligation R9.4
FAB49712 622291475 FASTQ/FAST5 632,305 5,376,464,744 8,503 12,540 28/11/2016 Bham Cells Ligation R9.4
FAF01253 83756522 FASTQ/FAST5 471,792 4,034,085,735 8,551 12,561 28/11/2016 Bham Cells Ligation R9.4
FAB45321** 285174896 FASTQ/FAST5 123,061 1,123,014,497 9,126 12,703 28/11/2016 Notts Cells Ligation R9.4
FAB49914 3775529215 FASTQ/FAST5 309,335 3,066,878,031 9,914 14,027 28/11/2016 Notts Cells Ligation R9.4
FAB45271 152889212 FASTQ/FAST5 467,701 3,959,651,805 8,466 12,564 28/11/2016 Notts Cells Ligation R9.4
FAB49164 4045668814 FASTQ/FAST5 747,060 4,997,920,867 6,690 9,366 06/12/2016 UCSC DNA Ligation R9.4
FAB49908 481119249 FASTQ/FAST5 227,767 4,416,647,293 19,391 41,839 09/12/2016 Bham Cells Rapid R9.4
FAF04090 3842965088 FASTQ/FAST5 94,833 2,337,803,872 24,652 85,013 09/12/2016 Bham Cells Rapid R9.4
FAF15665 16056159 FASTQ/FAST5 83,299 2,160,064,589 25,931 105,528 10/03/2017 Notts Cells Ultra R9.4
FAF13748 17958431 FASTQ/FAST5 55,051 1,427,000,374 25,921 75,193 10/03/2017 Notts Cells Ultra R9.4
FAF10039 2901545329 FASTQ/FAST5 43,709 1,074,279,009 24,578 60,128 01/03/2017 Bham Cells Ultra R9.4
FAF09968 3439856925 FASTQ/FAST5 21,947 658,551,981 30,006 125,607 03/03/2017 Bham Cells Ultra R9.4
FAF09277 3709819546 FASTQ/FAST5 78,080 2,237,071,487 28,651 118,062 03/06/2017 Bham Cells Ultra R9.4
FAF14035 3976726082 FASTQ/FAST5 101,222 2,082,960,600 20,578 88,613 08/03/2017 Notts Cells Ultra R9.4
FAF15694 4109802543 FASTQ/FAST5 63,850 1,743,301,488 27,303 103,541 06/03/2017 Bham Cells Ultra R9.4
FAF09713 4111860526 FASTQ/FAST5 67,968 1,842,932,107 27,114 93,737 07/03/2017 Bham Cells Ultra R9.4
FAF18554 4178920553 FASTQ/FAST5 272,029 3,008,840,150 11,060 25,583 06/03/2017 UBC Cells Rapid R9.4
FAF15630 4244782843 FASTQ/FAST5 13,406 354,563,221 26,448 107,403 09/03/2017 Notts Cells Ultra R9.4
FAF09640 4245291640 FASTQ/FAST5 77,481 1,729,363,584 22,319 89,354 07/03/2017 Bham Cells Ultra R9.4
FAF09701 4249180049 FASTQ/FAST5 71,733 1,998,980,799 27,867 116,126 03/03/2017 Bham Cells Ultra R9.4
FAF15586 82266371 FASTQ/FAST5 82,411 1,990,923,468 24,158 116,036 08/03/2017 Bham Cells Ultra R9.4
FAF05869 87644245 FASTQ/FAST5 451,359 3,892,152,689 8,623 14,576 08/03/2017 UBC Cells Ligation R9.4

* This run on R9 chemistry failed basecalling. We are working to resolve this.
** These two runs share the same flowcell ID through human error...

Previous versions

For previous versions of data:
(rel5), please go to: rel5
(rel3 and rel4), please go to: rel_3_4

Acknowledgements

We would like to acknowledge the support of Oxford Nanopore Technologies in generating this dataset, with particular thanks to Rosemary Dokos, Oliver Hartwell, Jonathan Pugh and Clive Brown. We would like to thank Radoslaw Poplawski and Simon Thompson for technical assistance with configuration and optimising of the CLIMB platform file system. We are grateful to Angel Pizarro and Jed Sundwall at Amazon Web Services for hosting this dataset as an AWS Open Data set.