High-coverage nanopore sequencing of samples from the 1000 Genomes Project to build a comprehensive catalog of human genetic variation.

Gustafson JA, Gibson SB, Damaraju N, Zalusky MPG, Hoekzema K, Twesigomwe D, Yang L, Snead AA, Richmond PA, De Coster W, Olson ND, Guarracino A, Li Q, Miller AL, Goffena J, Anderson ZB, Storz SHR, Ward SA, Sinha M, Gonzaga-Jauregui C, Clarke WE, Basile AO, Corvelo A, Reeves C, Helland A, Musunuri RL, Revsine M, Patterson KE, Paschal CR, Zakarian C, Goodwin S, Jensen TD, Robb E, 1000 Genomes ONT Sequencing Consortium, University of Washington Center for Rare Disease Research (UW-CRDR), Genomics Research to Elucidate the Genetics of Rare Diseases (GREGoR) Consortium, McCombie WR, Sedlazeck FJ, Zook JM, Montgomery SB, Garrison E, Kolmogorov M, Schatz MC, McLaughlin RN Jr, Dashnow H, Zody MC, Loose M, Jain M, Eichler EE, Miller DE

Open source

DOI: 10.1101/gr.279273.124
Published: 2024 Nov 20
Container: Genome research
Publisher: Not recorded
Open access: yes

Credibility signals

limited evidence Score 45/100 under policy 1.0.0. This is a metadata assessment, not a judgment of the paper's conclusions.

Show all credibility signals

cautionDOI registered: No matching Crossref record was present in this response. Source: Crossref; license: CC0 metadata
cautionDOI resolves: No matching Crossref record was present in this response. Source: Crossref; license: CC0 metadata
not scoredDirectory of Open Access Journals: No matching DOAJ record was present in this response. No allow-list match; this is not evidence of low credibility. Source: DOAJ; license: CC0
not scoredMEDLINE indexed: Not checked or no result supplied; no credibility inference made. Source: No authority result supplied; license: Unknown
not scoredOpenAlex core source: Not checked or no result supplied; no credibility inference made. Source: No authority result supplied; license: Unknown
not scoredKnown publisher allow-list: Not checked or no result supplied; no credibility inference made. Source: No authority result supplied; license: Unknown
not scoredROR affiliation: Not checked or no result supplied; no credibility inference made. Source: No authority result supplied; license: Unknown
not scoredRetraction Watch retraction: No retraction notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete. Source: Retraction Watch; license: CC BY 4.0
not scoredRetraction Watch expression of concern: No expression of concern notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete. Source: Retraction Watch; license: CC BY 4.0
not scoredRetraction Watch correction: No correction notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete. Source: Retraction Watch; license: CC BY 4.0
not scoredRetraction Watch reinstatement: No reinstatement notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete. Source: Retraction Watch; license: CC BY 4.0
supportingOpen access status: Normalized open-access status: open. Source: Normalized work metadata; license: Caller-provided; provenance license not supplied to scorer
not scoredPublication license: Not checked or no result supplied; no credibility inference made. Source: No authority result supplied; license: Unknown
not scoredPublication version: A publication version was supplied but is not scored. Source: Normalized work metadata; license: Caller-provided; provenance license not supplied to scorer
cautionMetadata completeness: 5 of 6 scored descriptive metadata groups are present; missing fields increase uncertainty. Source: Normalized work metadata; license: Caller-provided; provenance license not supplied to scorer

Cite this work

BibTeX

@article{allodium:10.1101/gr.279273.124,
  title = {High-coverage nanopore sequencing of samples from the 1000 Genomes Project to build a comprehensive catalog of human genetic variation.},
  author = {Gustafson JA and Gibson SB and Damaraju N and Zalusky MPG and Hoekzema K and Twesigomwe D and Yang L and Snead AA and Richmond PA and De Coster W and Olson ND and Guarracino A and Li Q and Miller AL and Goffena J and Anderson ZB and Storz SHR and Ward SA and Sinha M and Gonzaga-Jauregui C and Clarke WE and Basile AO and Corvelo A and Reeves C and Helland A and Musunuri RL and Revsine M and Patterson KE and Paschal CR and Zakarian C and Goodwin S and Jensen TD and Robb E and 1000 Genomes ONT Sequencing Consortium and University of Washington Center for Rare Disease Research (UW-CRDR) and Genomics Research to Elucidate the Genetics of Rare Diseases (GREGoR) Consortium and McCombie WR and Sedlazeck FJ and Zook JM and Montgomery SB and Garrison E and Kolmogorov M and Schatz MC and McLaughlin RN Jr and Dashnow H and Zody MC and Loose M and Jain M and Eichler EE and Miller DE},
  year = {2024},
  journal = {Genome research},
  doi = {10.1101/gr.279273.124},
  url = {https://doi.org/10.1101/gr.279273.124}
}

RIS

TY  - JOUR
TI  - High-coverage nanopore sequencing of samples from the 1000 Genomes Project to build a comprehensive catalog of human genetic variation.
AU  - Gustafson JA
AU  - Gibson SB
AU  - Damaraju N
AU  - Zalusky MPG
AU  - Hoekzema K
AU  - Twesigomwe D
AU  - Yang L
AU  - Snead AA
AU  - Richmond PA
AU  - De Coster W
AU  - Olson ND
AU  - Guarracino A
AU  - Li Q
AU  - Miller AL
AU  - Goffena J
AU  - Anderson ZB
AU  - Storz SHR
AU  - Ward SA
AU  - Sinha M
AU  - Gonzaga-Jauregui C
AU  - Clarke WE
AU  - Basile AO
AU  - Corvelo A
AU  - Reeves C
AU  - Helland A
AU  - Musunuri RL
AU  - Revsine M
AU  - Patterson KE
AU  - Paschal CR
AU  - Zakarian C
AU  - Goodwin S
AU  - Jensen TD
AU  - Robb E
AU  - 1000 Genomes ONT Sequencing Consortium
AU  - University of Washington Center for Rare Disease Research (UW-CRDR)
AU  - Genomics Research to Elucidate the Genetics of Rare Diseases (GREGoR) Consortium
AU  - McCombie WR
AU  - Sedlazeck FJ
AU  - Zook JM
AU  - Montgomery SB
AU  - Garrison E
AU  - Kolmogorov M
AU  - Schatz MC
AU  - McLaughlin RN Jr
AU  - Dashnow H
AU  - Zody MC
AU  - Loose M
AU  - Jain M
AU  - Eichler EE
AU  - Miller DE
PY  - 2024
JO  - Genome research
DO  - 10.1101/gr.279273.124
UR  - https://doi.org/10.1101/gr.279273.124
ER  -

APA

JA, G., SB, G., N, D., MPG, Z., K, H., D, T., L, Y., AA, S., PA, R., W, D. C., ND, O., A, G., Q, L., AL, M., J, G., ZB, A., SHR, S., SA, W., M, S., C, G., WE, C., AO, B., A, C., C, R., A, H., RL, M., M, R., KE, P., CR, P., C, Z., S, G., TD, J., E, R., Consortium, 1. G. O. S., (UW-CRDR), U. O. W. C. F. R. D. R., Consortium, G. R. T. E. T. G. O. R. D. (., WR, M., FJ, S., JM, Z., SB, M., E, G., M, K., MC, S., Jr, M. R., H, D., MC, Z., M, L., M, J., EE, E., & DE, M. (2024). High-coverage nanopore sequencing of samples from the 1000 Genomes Project to build a comprehensive catalog of human genetic variation.. Genome research. https://doi.org/10.1101/gr.279273.124

Source records

pubmed · retrieved 2026-09-27T01:56:42.108Z