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4,299,418 works, Canadian by any of four routes.

Every filter state is a URL; the URL is the query; the query is citable via /q/⟨hash⟩. The page, the API and the export parse the same parameters.

The current cohort, streamed from the database: every work column, the machine labels, the provisional scores, and the per-row validation status. Exports are capped at 100,000 rows. Mints a permanent /q/ link for this exact query. The same filters always produce the same link, whoever asks.

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Genomics and Rare Diseases
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Direct Codex and Gemma labels are unvalidated and sparse. Distilled predictions cover the full frame and are also unvalidated. Choose the evidence source explicitly; absence of a direct label is never a negative label.

affaffiliation
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The four routes compose: require the funder route and exclude affiliation to get the funder-only stratum no affiliation-based frame ever sees.

1,801 results · 1 filter active ·
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20002025
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Machine labels · sparse coverage
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An unlabeled work is unknown, not a negative. Label coverage is reported on every query.
1,801 works in the cohort · of 4,299,418page 2 of 37

Labels cover 4 of 1,801 works in this cohort. The rest are unlabeled, which is not a negative label: the label table is sparse today and grows as labeling rounds land.

Distilled predictions cover 1,801 of 1,801 works in this cohort. Predictions are machine_predicted_unvalidated. The Gemma side is a direct model label for every work (title-only); the Codex side is a distilled, calibrated classifier. Candidate is the union; consensus is the intersection.

affunlabeled
Future of Rare Diseases Research 2017–2027: An IRDiRC Perspective
Christopher P. Austin, Christine M. Cutillo, Lilian Pek Lian Lau, Anneliene Hechtelt Jonker, Ana Rath, Daria Julkowska +16 more
2017· review· en· Clinical and Translational Science· Biochemistry, Genetics and Molecular Biology
machine prediction:candidate · noneconsensus · none
249
citations
affunlabeled
Kabuki syndrome: international consensus diagnostic criteria
Margaret P Adam, Siddharth Banka, Hans T. Björnsson, Olaf A. Bodamer, Albert E. Chudley, Jaqueline Harris +8 more
2018· article· en· Journal of Medical Genetics· Biochemistry, Genetics and Molecular Biology
machine prediction:candidate · noneconsensus · none
248
citations
afffundaboutunlabeled
The genetic basis of DOORS syndrome: an exome-sequencing study
Philippe M. Campeau, Dalia Kasperavičiūtė, James T. Lu, Lindsay C. Burrage, Choel Kim, Mutsuki Hori +34 more
2013· article· en· The Lancet Neurology· Biochemistry, Genetics and Molecular Biology
machine prediction:candidate · noneconsensus · none
227
citations
affunlabeled
Progress in Rare Diseases Research 2010–2016: An IRDiRC Perspective
Hugh Dawkins, Ruxandra Draghia‐Akli, Paul Lasko, Lilian Pek Lian Lau, Anneliene Hechtelt Jonker, Christine M. Cutillo +8 more
2017· review· en· Clinical and Translational Science· Biochemistry, Genetics and Molecular Biology
machine prediction:candidate · noneconsensus · none
190
citations
afffundunlabeled
The genetic landscape of infantile spasms
Jacques L. Michaud, Mathieu Lachance, Fadi F. Hamdan, Lionel Carmant, Anne Lortie, Paola Diadori +7 more
2014· article· en· Human Molecular Genetics· Biochemistry, Genetics and Molecular Biology
machine prediction:candidate · noneconsensus · none
188
citations
fundno affunlabeled
Genome Sequencing for Diagnosing Rare Diseases
Monica H. Wojcik, Gabrielle Lemire, Eva Berger, Maha S. Zaki, Mariel Wissmann, Wathone Win +83 more
2024· article· en· New England Journal of Medicine· Biochemistry, Genetics and Molecular Biology
machine prediction:candidate · noneconsensus · none
184
citations
affunlabeled
Exome sequencing: Dual role as a discovery and diagnostic tool
Chee‐Seng Ku, D.N. Cooper, Constantin Polychronakos, Nasheen Naidoo, Mengchu Wu, Richie Soong
2011· review· en· Annals of Neurology· Biochemistry, Genetics and Molecular Biology
machine prediction:candidate · noneconsensus · none
178
citations
affunlabeled
G2D: a tool for mining genes associated with disease
Carolina Perez‐Iratxeta, Matthias Wjst, Peer Bork, Miguel A. Andrade‐Navarro
2005· article· en· BMC Genetics· Biochemistry, Genetics and Molecular Biology
machine prediction:candidate · noneconsensus · none
178
citations
afffundunlabeled
FLAGS, frequently mutated genes in public exomes
Casper Shyr, Maja Tarailo‐Graovac, Michael Gottlieb, Jessica J. Y. Lee, Clara van Karnebeek, Wyeth W. Wasserman
2014· article· en· BMC Medical Genomics· Biochemistry, Genetics and Molecular Biology
machine prediction:candidate · noneconsensus · none
176
citations
afffundunlabeled
Genetic Modifiers and Rare Mendelian Disease
K. M. Tahsin Hassan Rahit, Maja Tarailo‐Graovac
2020· review· en· Genes· Biochemistry, Genetics and Molecular Biology
machine prediction:candidate · noneconsensus · none
172
citations
afffundunlabeled
Genetic associations of protein-coding variants in human disease
Mitja Kurki, Christopher N. Foley, Asma Mechakra, Chia‐Yen Chen, Eric Marshall, Jemma B. Wilk +6 more
2022· article· en· Nature· Biochemistry, Genetics and Molecular Biology
machine prediction:candidate · noneconsensus · none
162
citations

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