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Scalable Nanopore sequencing of human genomes provides a comprehensive view of haplotype-resolved variation and methylation

Crossref DOI link: https://doi.org/10.1038/s41592-023-01993-x

Published Online: 2023-09-14

Published Print: 2023-10

Update policy: https://doi.org/10.1007/springer_crossmark_policy

Authors

Kolmogorov, Mikhail https://orcid.org/0000-0002-5489-9045
Billingsley, Kimberley J. https://orcid.org/0000-0002-8003-4029
Mastoras, Mira https://orcid.org/0000-0001-6897-0116
Meredith, Melissa https://orcid.org/0000-0001-5736-3193
Monlong, Jean

Lorig-Roach, Ryan

Asri, Mobin

Alvarez Jerez, Pilar

Malik, Laksh

Dewan, Ramita https://orcid.org/0000-0002-7611-7032
Reed, Xylena

Genner, Rylee M.

Daida, Kensuke https://orcid.org/0000-0002-9177-9587
Behera, Sairam https://orcid.org/0000-0002-9047-0203
Shafin, Kishwar https://orcid.org/0000-0001-5252-3434
Pesout, Trevor

Prabakaran, Jeshuwin https://orcid.org/0000-0002-0409-9760
Carnevali, Paolo

Yang, Jianzhi

Rhie, Arang https://orcid.org/0000-0002-9809-8127
Scholz, Sonja W. https://orcid.org/0000-0002-6623-0429
Traynor, Bryan J. https://orcid.org/0000-0003-0527-2446
Miga, Karen H. https://orcid.org/0000-0002-3670-4507
Jain, Miten https://orcid.org/0000-0002-4571-3982
Timp, Winston https://orcid.org/0000-0003-2083-6027
Phillippy, Adam M. https://orcid.org/0000-0003-2983-8934
Chaisson, Mark https://orcid.org/0000-0001-5395-1457
Sedlazeck, Fritz J. https://orcid.org/0000-0001-6040-2691
Blauwendraat, Cornelis https://orcid.org/0000-0001-9358-8111
Paten, Benedict https://orcid.org/0000-0001-8863-3539
Funding

Funding for this research was provided by:

U.S. Department of Health & Human Services | NIH | National Human Genome Research Institute (U24HG010262, U24HG011853, U01HG010961, R01HG010485)

U.S. Department of Health & Human Services | National Institutes of Health (OT2OD026682, T32HG012344, AG000538)

U.S. Department of Health & Human Services | NIH | National Institute of Neurological Disorders and Stroke (ZIANS003154, ZIAAG000538, U24NS072026)
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Text and Data Mining valid from 2023-09-14

Version of Record valid from 2023-09-14
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Article History

Received: 28 January 2023

Accepted: 4 August 2023

First Online: 14 September 2023

Competing interests

: K.S. is an employee of Google LLC and owns Alphabet stock as part of the standard compensation package; authors from Google LLC did not have access to the cell line and brain tissue sample data. W.T. has two patents (8,748,091 and 8,394,584) licensed to Oxford Nanopore Technologies. F.J.S. received research support from Illumina, Pacific Biosciences and Oxford Nanopore Technologies. S.W.S. serves on the Scientific Advisory Council of the Lewy Body Dementia Association and the Multiple System Atrophy Coalition. S.W.S. and B.J.T. receive research support from Cerevel Therapeutics. B.J.T. holds patents on the clinical testing and therapeutic implications of the C9orf72 repeat expansion. The remaining authors declare no competing interests.

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