MétaCan
Menu
Back to cohort
Record W3097251555 · doi:10.1101/2020.10.28.20221804

A catalog of associations between rare coding variants and COVID-19 outcomes

2020· preprint· en· W3097251555 on OpenAlexafffund
Jack A. Kosmicki, Julie Horowitz, Nilanjana Banerjee, Rouel Lanche, Anthony Marcketta, Evan K. Maxwell, Xiaodong Bai, Dylan Sun, Joshua Backman, Deepika Sharma, Hyun Min Kang, Colm O’Dushlaine, Ashish Yadav, Alison Mansfield, A. H. Li, Kyoko Watanabe, Lauren Gurski, Siobhan McCarthy, Adam E. Locke, Sana Khalid, Shaun T. O’Keeffe, Joelle Mbatchou, Olympe Chazara, Yunfeng Huang, Erika Kvikstad, Anne O’Neill, Paul Nioi, Margaret M. Parker, Slavé Petrovski, Heiko Runz, Joseph D. Szustakowski, Q. Wang, Emily Wong, Aldo Córdova‐Palomera, E. N. Smith, Sándor Szalma, Xiuwen Zheng, Sahar Esmaeeli, J. W. Davis, Y-P. Lai, X. Chen, Anne E. Justice, Joseph B. Leader, Tooraj Mirshahi, David J. Carey, Anurag Verma, Giorgio Sirugo, Marylyn D. Ritchie, Daniel J. Rader, Gundula Povysil, David B. Goldstein, Krzysztof Kiryluk, Erola Pairo‐Castineira, Konrad Rawlik, Dorota Pasko, Susan Walker, Alison Meynert, Athanasios Kousathanas, Loukas Moutsianas, Albert Tenesa, Mark J. Caulfield, Richard H. Scott, James F. Wilson, J. Kenneth Baillie, Guillaume Butler‐Laporte, Tomoko Nakanishi, Mark Lathrop, J. Brent Richards, Marcus B. Jones, Suganthi Balasubramanian, William Salerno, Alan R. Shuldiner, Jonathan Marchini, John D. Overton, Lukas Habegger, Michael Cantor, Jeffrey G. Reid, Aris Baras, Gonçalo R. Abecasis, Manuel A. R. Ferreira

Bibliographic record

VenuemedRxiv · 2020
Typepreprint
Languageen
FieldImmunology and Microbiology
Topicinterferon and immune responses
Canadian institutionsMcGill UniversityJewish General Hospital
FundersNational Center for Advancing Translational SciencesCanadian Institutes of Health ResearchPerelman School of Medicine, University of PennsylvaniaMedical Research CouncilJewish General HospitalNational Institutes of HealthJapan Society for the Promotion of ScienceCancer Research UKFonds de Recherche du Québec - SantéUniversity of Pennsylvania Health SystemGeorgia Clinical and Translational Science AllianceUniversity of Pennsylvania
KeywordsCoronavirus disease 2019 (COVID-19)Genome-wide association studyGeneExomeCoronavirusDiseaseSevere acute respiratory syndrome coronavirus 2 (SARS-CoV-2)BiologyMedicineGeneticsSingle-nucleotide polymorphismExome sequencingInfectious disease (medical specialty)Internal medicineGenotypeMutation

Abstract

fetched live from OpenAlex

Severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) causes coronavirus disease-19 (COVID-19), a respiratory illness that can result in hospitalization or death. We investigated associations between rare genetic variants and seven COVID-19 outcomes in 543,213 individuals, including 8,248 with COVID-19. After accounting for multiple testing, we did not identify any clear associations with rare variants either exome-wide or when specifically focusing on (i) 14 interferon pathway genes in which rare deleterious variants have been reported in severe COVID-19 patients; (ii) 167 genes located in COVID-19 GWAS risk loci; or (iii) 32 additional genes of immunologic relevance and/or therapeutic potential. Our analyses indicate there are no significant associations with rare protein-coding variants with detectable effect sizes at our current sample sizes. Analyses will be updated as additional data become available, with results publicly browsable at https://rgc-covid19.regeneron.com.

Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.

How this classification was reachedexpand

Full frame distilled prediction

Teacher imitation

Not calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.

metaresearch head score (Codex)0.000
metaresearch head score (Gemma)0.002
Version: codex-gemma-dda1882f352aValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Observational · Consensus signal: Observational
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.043
Threshold uncertainty score0.910

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0000.002
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0010.000
Bibliometrics0.0000.000
Science and technology studies0.0000.000
Scholarly communication0.0000.000
Open science0.0000.001
Research integrity0.0010.001
Insufficient payload (model declined to judge)0.0000.000

Machine scores (provisional)

The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.

Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.

Opus teacher head0.064
GPT teacher head0.323
Teacher spread0.259 · how far apart the two teachers sit on this one work
Validation statusscore_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from it

Classification

machine, unvalidated

Machine predicted; a candidate call from one teacher head, not a consensus.

The models applied no category: nothing in the taxonomy fit this work.
Study designObservational
Domainnot available
GenreEmpirical

How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".

Quick stats

Citations31
Published2020
Admission routes2
Has abstractyes

Explore more

Same venuemedRxivSame topicinterferon and immune responsesFrench-language works237,207