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Record W4246978118 · doi:10.31234/osf.io/vgw7s

Multi-Trait Analysis of GWAS and Biological Insights to Cognition: A response to Hill (2017)

2018· preprint· en· W4246978118 on OpenAlexaff
Max Lam, Joey W. Trampush, Jin Yu, Emma Knowles, Srdjan Djurovic, Ingrid Melle, Kjetil Sundet, Andrea Christoforou, Ivar Reinvang, Pamela DeRosse, Astri J. Lundervold, Vidar M. Steen, Thomas Espeseth, Katri Räikkönen, Elisabeth Widén, Aarno Palotie, Johan G. Eriksson, Ina Giegling, Bettina Konte, Panos Roussos, Stella G. Giakoumaki, Katherine E. Burdick, Antony Payton, William Ollier, Ornit Chiba‐Falek, Deborah K. Attix, Anna C. Need, Elizabeth T. Cirulli, Aristotle N. Voineskos, Nikos C. Stefanis, Dimitrios Avramopoulos, Alex Hatzimanolis, Dan E. Arking, Nikolaos Smyrnis, Robert M. Bilder, Nelson B. Freimer, Tyrone D. Cannon, Edythe D. London, Russell A. Poldrack, Fred W. Sabb, Eliza Congdon, Emily Drabant Conley, Matthew A. Scult, Dwight Dickinson, Richard E. Straub, Gary Donohoe, Derek W. Morris, Aiden Corvin, Michael Gill, Ahmad R. Hariri, Daniel R. Weinberger, Neil Pendleton, Panos Bitsios, Dan Rujescu, Jari Lahti, Stéphanie Le Hellard, Matthew C. Keller, Ole A. Andreassen, David C. Glahn, Anil K. Malhotra, Todd Lencz

Bibliographic record

Venuenot available
Typepreprint
Languageen
FieldComputer Science
TopicComputational Drug Discovery Methods
Canadian institutionsUniversity of TorontoCentre for Addiction and Mental Health
Fundersnot available
KeywordsGenome-wide association studyTraitCognitionData scienceComputational biologyBiologyComputer scienceNeuroscienceGenetics

Abstract

fetched live from OpenAlex

Hill (2017) presented a critique of our recently published paper in Cell Reports entitled “Large-Scale Cognitive GWAS Meta-Analysis Reveals Tissue-Specific Neural Expression and Potential Nootropic Drug Targets” (Lam et al. 2017). Specifically, Hill offered several inter-related comments suggesting potential problems with our use of a new analytic method called Multi-Trait Analysis of GWAS (MTAG; Turley et al. 2017). In this brief paper, we respond to each of these concerns. Using empirical data, we conclude that our MTAG results do not suffer from “inflation of the false discovery rate”, as suggested by Hill (2017), and are not “more relevant to the genetic contributions to education than they are to the genetic contributions to intelligence.”

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)0.158
metaresearch head score (Gemma)0.374
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: Commentary · Consensus signal: Commentary
Teacher disagreement score0.158
Threshold uncertainty score0.836

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.1580.374
Meta-epidemiology (narrow)0.0020.001
Meta-epidemiology (broad)0.0030.002
Bibliometrics0.0030.004
Science and technology studies0.0040.025
Scholarly communication0.0080.015
Open science0.0060.006
Research integrity0.0210.066
Insufficient payload (model declined to judge)0.0030.002

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 head0.095
GPT teacher head0.371
Teacher spread0.276 · 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
GenreCommentary

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

Citations0
Published2018
Admission routes1
Has abstractyes

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