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Tutorial: guidelines for quality filtering of whole-exome and whole-genome sequencing data for population-scale association analyses

Crossref DOI link: https://doi.org/10.1038/s41596-025-01169-1

Published Online: 2025-03-28

Published Print: 2025-09

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

Authors

Sealock, Julia M. https://orcid.org/0000-0002-9346-3498
Ivankovic, Franjo

Liao, Calwing

Chen, Siwei

Churchhouse, Claire https://orcid.org/0000-0003-3140-6452
Karczewski, Konrad J. https://orcid.org/0000-0003-2878-4671
Howrigan, Daniel P.

Neale, Benjamin M. https://orcid.org/0000-0003-1513-6077
Funding

Funding for this research was provided by:

U.S. Department of Health & Human Services | NIH | National Institute of Mental Health (R37MH107649)

U.S. Department of Health & Human Services | NIH | National Institute of Mental Health (R01MH101244)

U.S. Department of Health & Human Services | NIH | National Institute of Mental Health (U01MH125047)

U.S. Department of Health & Human Services | NIH | National Institute of Mental Health (R37MH107649)

U.S. Department of Health & Human Services | NIH | National Institute of Mental Health (R01MH101244)

U.S. Department of Health & Human Services | NIH | National Institute of Mental Health (U01MH125047)

U.S. Department of Health & Human Services | NIH | National Institute of Mental Health (R37MH107649)

U.S. Department of Health & Human Services | NIH | National Institute of Mental Health (R01MH101244)

U.S. Department of Health & Human Services | NIH | National Institute of Mental Health (U01MH125047)

U.S. Department of Health & Human Services | NIH | National Institute of Mental Health (R37MH107649)

U.S. Department of Health & Human Services | NIH | National Institute of Mental Health (R01MH101244)

U.S. Department of Health & Human Services | NIH | National Institute of Mental Health (U01MH125047)

U.S. Department of Health & Human Services | NIH | National Institute of Mental Health (R37MH107649)

U.S. Department of Health & Human Services | NIH | National Institute of Mental Health (R01MH101244)

U.S. Department of Health & Human Services | NIH | National Institute of Mental Health (U01MH125047)

U.S. Department of Health & Human Services | NIH | National Institute of Mental Health (R37MH107649)

U.S. Department of Health & Human Services | NIH | National Institute of Mental Health (R01MH101244)

U.S. Department of Health & Human Services | NIH | National Institute of Mental Health (U01MH125047)

U.S. Department of Health & Human Services | NIH | National Institute of Mental Health (R37MH107649)

U.S. Department of Health & Human Services | NIH | National Institute of Mental Health (R01MH101244)

Novo Nordisk Fonden (NNF21SA0072102)

Novo Nordisk (NNF21SA0072102)

Novo Nordisk (NNF21SA0072102)

Novo Nordisk (NNF21SA0072102)
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Text and Data Mining valid from 2025-03-28

Version of Record valid from 2025-03-28
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Article History

Received: 28 June 2024

Accepted: 4 March 2025

First Online: 28 March 2025

Competing interests

: B.M.N. is a member of the scientific advisory board at Deep Genomics and Neumora. K.J.K. is a consultant for Tome Biosciences, AlloDx and Vor Biosciences, and a member of the scientific advisory board of Nurture Genomics.

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