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Record W3089445168 · doi:10.1101/2020.09.29.20203950

Alzheimer’s Disease variant portal (ADVP): a catalog of genetic findings for Alzheimer’s Disease

2020· preprint· en· W3089445168 on OpenAlexfundno aff
Pavel P. Kuksa, Chia‐Lun Liu, Wei Fu, Liming Qu, Yi Zhao, Živadin Katanić, Amanda B Kuzma, Pei‐Chuan Ho, Kai‐Teh Tzeng, Otto Valladares, Shin‐Yi Chou, Adam C. Naj, Gerard D. Schellenberg, Li‐San Wang, Yuk Yee Leung

Bibliographic record

VenuemedRxiv · 2020
Typepreprint
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicBioinformatics and Genomic Networks
Canadian institutionsnot available
FundersWeston Brain InstituteNational Institute on AgingAlzheimer's Association
KeywordsGenome-wide association studyGenetic architectureDiseaseAlzheimer's diseaseBiologyNeuropathologyGenetic associationGeneticsComputational biologyMedicineGeneGenotypeQuantitative trait locusSingle-nucleotide polymorphismPathology

Abstract

fetched live from OpenAlex

Abstract Alzheimer’s Disease (AD) genetics has made substantial progress through genome-wide association studies (GWASs). An up-to-date resource providing harmonized, searchable information on AD genetic variants with linking to genes and supporting functional evidence is needed. We developed the Alzheimer’s Disease Variant Portal (ADVP), an extensive collection of associations curated from >200 GWAS publications from Alzheimer’s Disease Genetics Consortium (ADGC) and other researchers. Publications are reviewed systematically to extract top associations for harmonization and genomic annotation. ADVP V1.0 catalogs 6,990 associations with disease-risk, expression quantitative traits, endophenotypes and neuropathology across >900 loci, >1,800 variants, >80 cohorts, and 8 populations. ADVP integrates with NIAGADS Alzheimer’s GenomicsDB where investigators can cross-reference other functional evidence. ADVP is a valuable resource for investigators to quickly and systematically explore high-confidence AD genetic findings and provides insights into population- and tissue-specific AD genetic architecture. ADVP is continually maintained and enhanced by NIAGADS and is freely accessible ( https://advp.niagads.org ).

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 machine prediction

Teacher imitation

Not calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.

metaresearch head score (Codex)0.004
metaresearch head score (Gemma)0.013
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Not applicable · Consensus signal: Not applicable
GenreCandidate signal: Dataset · Consensus signal: Dataset
Teacher disagreement score0.061
Threshold uncertainty score0.204

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0040.013
Meta-epidemiology (narrow)0.0020.001
Meta-epidemiology (broad)0.0010.001
Bibliometrics0.0140.016
Science and technology studies0.0010.000
Scholarly communication0.0040.002
Open science0.0020.005
Research integrity0.0010.002
Insufficient payload (model declined to judge)0.0610.042

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 head0.027
GPT teacher head0.265
Teacher spread0.238 · 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 source (direct Gemma or distilled Codex), not a consensus.

The models applied no category: nothing in the taxonomy fit this work.
Study designNot applicable
Domainnot available
GenreDataset

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

Citations1
Published2020
Admission routes1
Has abstractyes

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