The Biobank Rare Variant consortium powers the discovery of rare genetic associations through global collaboration.

Palmer DS, Hill B, Hodgson S, Jõeloo M, Kalantzis G, Kousathanas A, Koyama S, Lu W, Namba S, Rodriguez ZB, Shortt JA, Sonehara K, Vartanian N, Vy HMT, Wade IA, White SL, Baya NA, Chami N, Do R, Estrada K, Finer S, Genovese G, Guez J, Itan Y, Kanai M, Lassen FH, Matsuda K, Moutsianas L, Peloso GM, Palta P, Rader DJ, Rendon A, Rocheleau G, Sadeghi-Alavijeh O, Selvaraj MS, Smit RA, Wang D, Wigdor EM, Yu Z, Colorado Center for Personalized Medicine, Estonian Biobank Research Team, Genes & Health Industry Consortium, Genes & Health Research Team, Penn Medicine BioBank, The BioBank Japan Project, Gignoux CR, Heyne H, Loos RJ, Martin HC, Milani L, Natarajan P, Okada Y, Pozdeyev N, van Heel DA, Verma A, Zhou W, Karczewski KJ, Lindgren CM, Neale BM

Open source

DOI: 10.64898/2026.05.21.26353759
Published: 2026 May 24
Container: medRxiv : the preprint server for health sciences
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:10.64898/2026.05.21.26353759,
  title = {The Biobank Rare Variant consortium powers the discovery of rare genetic associations through global collaboration.},
  author = {Palmer DS and Hill B and Hodgson S and Jõeloo M and Kalantzis G and Kousathanas A and Koyama S and Lu W and Namba S and Rodriguez ZB and Shortt JA and Sonehara K and Vartanian N and Vy HMT and Wade IA and White SL and Baya NA and Chami N and Do R and Estrada K and Finer S and Genovese G and Guez J and Itan Y and Kanai M and Lassen FH and Matsuda K and Moutsianas L and Peloso GM and Palta P and Rader DJ and Rendon A and Rocheleau G and Sadeghi-Alavijeh O and Selvaraj MS and Smit RA and Wang D and Wigdor EM and Yu Z and Colorado Center for Personalized Medicine and Estonian Biobank Research Team and Genes \& Health Industry Consortium and Genes \& Health Research Team, Penn Medicine BioBank, The BioBank Japan Project and Gignoux CR and Heyne H and Loos RJ and Martin HC and Milani L and Natarajan P and Okada Y and Pozdeyev N and van Heel DA and Verma A and Zhou W and Karczewski KJ and Lindgren CM and Neale BM},
  year = {2026},
  journal = {medRxiv : the preprint server for health sciences},
  doi = {10.64898/2026.05.21.26353759},
  url = {https://doi.org/10.64898/2026.05.21.26353759}
}

RIS

TY  - JOUR
TI  - The Biobank Rare Variant consortium powers the discovery of rare genetic associations through global collaboration.
AU  - Palmer DS
AU  - Hill B
AU  - Hodgson S
AU  - Jõeloo M
AU  - Kalantzis G
AU  - Kousathanas A
AU  - Koyama S
AU  - Lu W
AU  - Namba S
AU  - Rodriguez ZB
AU  - Shortt JA
AU  - Sonehara K
AU  - Vartanian N
AU  - Vy HMT
AU  - Wade IA
AU  - White SL
AU  - Baya NA
AU  - Chami N
AU  - Do R
AU  - Estrada K
AU  - Finer S
AU  - Genovese G
AU  - Guez J
AU  - Itan Y
AU  - Kanai M
AU  - Lassen FH
AU  - Matsuda K
AU  - Moutsianas L
AU  - Peloso GM
AU  - Palta P
AU  - Rader DJ
AU  - Rendon A
AU  - Rocheleau G
AU  - Sadeghi-Alavijeh O
AU  - Selvaraj MS
AU  - Smit RA
AU  - Wang D
AU  - Wigdor EM
AU  - Yu Z
AU  - Colorado Center for Personalized Medicine
AU  - Estonian Biobank Research Team
AU  - Genes & Health Industry Consortium
AU  - Genes & Health Research Team, Penn Medicine BioBank, The BioBank Japan Project
AU  - Gignoux CR
AU  - Heyne H
AU  - Loos RJ
AU  - Martin HC
AU  - Milani L
AU  - Natarajan P
AU  - Okada Y
AU  - Pozdeyev N
AU  - van Heel DA
AU  - Verma A
AU  - Zhou W
AU  - Karczewski KJ
AU  - Lindgren CM
AU  - Neale BM
PY  - 2026
JO  - medRxiv : the preprint server for health sciences
DO  - 10.64898/2026.05.21.26353759
UR  - https://doi.org/10.64898/2026.05.21.26353759
ER  -

APA

DS, P., B, H., S, H., M, J., G, K., A, K., S, K., W, L., S, N., ZB, R., JA, S., K, S., N, V., HMT, V., IA, W., SL, W., NA, B., N, C., R, D., K, E., S, F., G, G., J, G., Y, I., M, K., FH, L., K, M., L, M., GM, P., P, P., DJ, R., A, R., G, R., O, S., MS, S., RA, S., D, W., EM, W., Z, Y., Medicine, C. C. F. P., Team, E. B. R., Consortium, G. &. H. I., Project, G. &. H. R. T. P. M. B. T. B. J., CR, G., H, H., RJ, L., HC, M., L, M., P, N., Y, O., N, P., DA, V. H., A, V., W, Z., KJ, K., CM, L., & BM, N. (2026). The Biobank Rare Variant consortium powers the discovery of rare genetic associations through global collaboration.. medRxiv : the preprint server for health sciences. https://doi.org/10.64898/2026.05.21.26353759

Source records

pubmed · retrieved 2026-09-25T23:11:03.070Z
europe-pmc · retrieved 2026-09-25T23:11:03.082Z