MétaCan
Menu
Cohort builder

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.

Search term
Author
Year range
Sort
Language
Type
Field
Venue
Topic
Genomics and Rare Diseases
Retraction
Abstract
Evidence source
Study design
Label agreement
Label status

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
fundfunder
venuejournal
aboutaboutness

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 ·
Results by year
20002025
Publication date
Categories
Machine labels · sparse coverage
Evidence
Language
Type
Citations
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 9 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.

afffundunlabeled
Identification of Genes for Childhood Heritable Diseases
Kym M. Boycott, David A. Dyment, Sarah L. Sawyer, Megan R. Vanstone, Chandree L. Beaulieu
2014· review· en· Annual Review of Medicine· Biochemistry, Genetics and Molecular Biology
distilled prediction:candidate · noneconsensus · none
32
citations
affunlabeled
Warsaw breakage syndrome: Further clinical and genetic delineation
Ebba Alkhunaizi, Ranad Shaheen, Sanjay Kumar Bharti, Ann M. Joseph‐George, Karen Chong, Ghada M. H. Abdel‐Salam +9 more
2018· article· en· American Journal of Medical Genetics Part A· Biochemistry, Genetics and Molecular Biology
distilled prediction:candidate · noneconsensus · none
32
citations
afffundunlabeled
Trio RNA sequencing in a cohort of medically complex children
Ashish R. Deshwar, Kyoko E. Yuki, Huayun Hou, Yijing Liang, Tayyaba Khan, Alper Celik +13 more
2023· article· en· The American Journal of Human Genetics· Biochemistry, Genetics and Molecular Biology
distilled prediction:candidate · noneconsensus · none
32
citations
fundno affunlabeled
Genomic Disorders
James R. Lupski, Paweł Stankiewicz
2006· book· en· Humana Press eBooks· Biochemistry, Genetics and Molecular Biology
distilled prediction:candidate · metaepi_narrowconsensus · none
32
citations
afffundunlabeled
Using a meta-narrative literature review and focus groups with key stakeholders to identify perceived challenges and solutions for generating robust evidence on the effectiveness of treatments for rare diseases
Kylie Tingley, Doug Coyle, Ian D. Graham, Lindsey Sikora, Pranesh Chakraborty, Kumanan Wilson +3 more
2018· review· en· Orphanet Journal of Rare Diseases· Biochemistry, Genetics and Molecular Biology
distilled prediction:candidate · metaepi_narrowconsensus · none
32
citations
affunlabeled
When One Diagnosis Is Not Enough
Kym M. Boycott, A. Micheil Innes
2016· letter· en· New England Journal of Medicine· Biochemistry, Genetics and Molecular Biology
distilled prediction:candidate · noneconsensus · none
30
citations
affno abstractunlabeled
Whole‐genome sequencing and the physician
Adrian Thorogood, BM Knoppers, WJ Dondorp, GMWR de Wert
2012· article· en· Clinical Genetics· Biochemistry, Genetics and Molecular Biology
distilled prediction:candidate · noneconsensus · none
30
citations
afffundno abstractunlabeled
DOORS syndrome and a recurrent truncating ATP6V1B2 variant
Éliane Beauregard‐Lacroix, G. Pacheco-Cuellar, Norbert Fonya Ajeawung, Jessica Tardif, Klaus Dieterich, Tabib Dabir +16 more
2020· article· en· Genetics in Medicine· Biochemistry, Genetics and Molecular Biology
distilled prediction:candidate · noneconsensus · none
30
citations
affunlabeled
Genome Medicine: past, present and future
Charles Auffray, Timothy Caulfield, Muin J. Khoury, James R. Lupski, Matthias Schwab, Timothy D. Veenstra
2011· article· en· Genome Medicine· Biochemistry, Genetics and Molecular Biology
distilled prediction:candidate · noneconsensus · none
29
citations
affunlabeled
Current trends in biobanking for rare diseases: a review
Caroline Graham, Hugh Dawkins, Gareth Baynam, Hanns Lockmuller, Kate Bushby, Lucía Monaco +14 more
2014· review· en· Journal of Biorepository Science for Applied Medicine· Biochemistry, Genetics and Molecular Biology
distilled prediction:candidate · noneconsensus · none
29
citations
affaboutunlabeled
Rare disease surveillance: An international perspective
Elizabeth Elliott, A Nicoll, Richard Lynn, V. Marchessault, Remy A. Hirasing, GF Ridley
2001· article· en· Paediatrics & Child Health· Biochemistry, Genetics and Molecular Biology
distilled prediction:candidate · noneconsensus · none
28
citations
affunlabeled
Long‐term follow‐up of three individuals with Kabuki syndrome
Stavit A. Shalev, L. Clarke, David Koehn, Sylvie Langlois, Elaine H. Zackai, Judith G. Hall +1 more
2003· article· en· American Journal of Medical Genetics Part A· Biochemistry, Genetics and Molecular Biology
distilled prediction:candidate · noneconsensus · none
28
citations

How this was built: Screen · Findings · About