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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 5 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 teacher distillation outputs. Candidate is the union; consensus is the intersection.

affunlabeled
Mobile element insertion detection in 89,874 clinical exomes
Rebecca I. Torene, Kevin Galens, Shuxi Liu, Kevin J. Arvai, Carlos Borroto, Julie Scuffins +11 more
2020· article· en· Genetics in Medicine· Biochemistry, Genetics and Molecular Biology
distilled prediction:candidate · noneconsensus · none
67
citations
affno abstractunlabeled
A call for global action for rare diseases in Africa
Gareth Baynam, Stephen C. Groft, Francois H. van der Westhuizen, Safiyya D. Gassman, Kelly du Plessis, Emily P. Coles +43 more
2019· article· en· Nature Genetics· Biochemistry, Genetics and Molecular Biology
distilled prediction:candidate · noneconsensus · none
66
citations
affno abstractunlabeled
Impact of integrated translational research on clinical exome sequencing
Eric W. Klee, Margot A. Cousin, Filippo Pinto e Vairo, Joel A. Morales‐Rosado, Erica L. Macke, W. Garrett Jenkinson +54 more
2020· article· en· Genetics in Medicine· Biochemistry, Genetics and Molecular Biology
distilled prediction:candidate · noneconsensus · none
65
citations
afffundunlabeled
De novo mutations, genetic mosaicism and human disease
Mohiuddin Mohiuddin, R. Frank Kooy, Christopher E. Pearson
2022· review· en· Frontiers in Genetics· Biochemistry, Genetics and Molecular Biology
distilled prediction:candidate · metaepi_narrowconsensus · none
65
citations
affunlabeled
Matchmaker Exchange
Nara Sobreira, Harindra Arachchi, Orion J. Buske, Jessica X. Chong, Ben Hutton, Julia Foreman +7 more
2017· article· en· Current Protocols in Human Genetics· Biochemistry, Genetics and Molecular Biology
distilled prediction:candidate · noneconsensus · none
63
citations
afffundno abstractunlabeled
Atypical cerebral palsy: genomics analysis enables precision medicine
Allison Matthews, Ingrid Blydt-Hansen, Basma Al-Jabri, John Andersen, Maja Tarailo‐Graovac, Magda Price +19 more
2018· article· en· Genetics in Medicine· Biochemistry, Genetics and Molecular Biology
distilled prediction:candidate · noneconsensus · none
60
citations
affunlabeled
Recommendations for locus-specific databases and their curation
Richard G.H. Cotton, Arleen D. Auerbach, J. Beckmann, Olga O. Blumenfeld, Anthony J. Brookes, A. F. Brown +17 more
2007· article· en· Human Mutation· Biochemistry, Genetics and Molecular Biology
distilled prediction:candidate · noneconsensus · none
59
citations
affunlabeled
Multigene Panel Testing in a Large Cohort of Adults With Epilepsy
Dianalee McKnight, Sara L. Bristow, Rebecca Truty, Ana Morales, Molly Stetler, M. Jody Westbrook +7 more
2021· article· en· Neurology Genetics· Biochemistry, Genetics and Molecular Biology
distilled prediction:candidate · noneconsensus · none
59
citations
afffundunlabeled
Uncovering Missing Heritability in Rare Diseases
Tatiana Maroilley, Maja Tarailo‐Graovac
2019· review· en· Genes· Biochemistry, Genetics and Molecular Biology
distilled prediction:candidate · metaepi_narrowconsensus · none
58
citations
affunlabeled
Best Practices for Benchmarking Germline Small Variant Calls in Human Genomes
Peter Krusche, Len Trigg, Paul C. Boutros, Christopher E. Mason, Francisco M. De La Vega, Benjamin L. Moore +10 more
2018· preprint· en· bioRxiv (Cold Spring Harbor Laboratory)· Biochemistry, Genetics and Molecular Biology
distilled prediction:candidate · metaepi_narrowconsensus · none
58
citations

How this was built: Screen · Findings · About