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Record W2765609605 · doi:10.1101/208496

Heritability of regional brain volumes in large-scale neuroimaging and genetic studies

2017· preprint· en· W2765609605 on OpenAlexfundno aff
Bingxin Zhao, Joseph G. Ibrahim, Yun Li, Tengfei Li, Yue Wang, Yue Shan, Ziliang Zhu, Fan Zhou, Jingwen Zhang, Chao Huang, Huiling Liao, Liuqing Yang, Paul M. Thompson, Hongtu Zhu, Connor McCabe, Linda Chang, Natacha Akshoomoff, Erik Newman, Thomas Ernst, Peter C.M. van Zijl, Joshua Kuperman, Sarah S. Murray, Cinnamon S. Bloss, Mark I. Appelbaum, Anthony Gamst, Wesley K. Thompson, Hauke Bartsch, Michael D. Weiner, Paul Aisen, Ronald C. Petersen, Clifford R. Jack, William Jagust, John Q. Trojanowki, Arthur W. Toga, Laurel Beckett, Robert C. Green, Andrew J. Saykin, John C. Morris, Leslie M. Shaw, Zaven S. Khachaturian, Greg Sorensen, Maria Carrillo, Lew Kuller, Marc Raichle, Steven M. Paul, Peter Davies, Howard Fillit, Franz Hefti, Davie Holtzman, M. Marcel Mesulman, William C. Potter, Peter J. Snyder, Adam J. Schwartz, Tom Montine, Ronald G. Thomas, Michael Donohue, Sarah Walter, Devon Gessert, Tamie Sather, Gus Jiminez, Danielle Harvey, Matt A. Bernstein, Nick C. Fox, Norbert Schuff, Charles DeCarli, Bret Borowski, Jeff Gunter, Matthew L. Senjem, Prashanthi Vemuri, David T. Jones, Kejal Kantarci, Chad Ward, Robert A. Koeppe, Norm Foster, Eric M. Reiman, Kewei Chen, Susan Landau, Nigel J. Cairns, Erin Householder, Lisa Taylor‐Reinwald, Virginia M.‐Y. Lee, Magdalena Korecka, Michal Figurski, Karen Crawford, Scott Neu, Tatiana Foroud, Steven G. Potkin, Li Shen, Kelley Faber, Sungeun Kim, Kwangsik Nho, Leon J. Thal, Richard Frank, Neil Buckholtz, Marilyn Albert, John Hsiao

Bibliographic record

VenuebioRxiv (Cold Spring Harbor Laboratory) · 2017
Typepreprint
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicGenetic Associations and Epidemiology
Canadian institutionsnot available
FundersNational Institute on Drug AbuseNational Institute on AgingNational Institute of Biomedical Imaging and BioengineeringCanadian Institutes of Health ResearchNational Institutes of HealthCancer Prevention and Research Institute of TexasGenentechIXICOServierEisaiNorthern California Institute for Research and EducationUniversity of California, San DiegoPfizerBiogenBioClinicaMedpaceSynarcUniversity of Southern CaliforniaNovartis Pharmaceuticals CorporationU.S. Department of DefenseEli Lilly and CompanyBristol-Myers SquibbFoundation for the National Institutes of HealthMeso Scale DiagnosticsF. Hoffmann-La RocheAlzheimer's Drug Discovery FoundationNational Science Foundation
KeywordsHeritabilityBiobankNeurocognitiveSingle-nucleotide polymorphismNeuroimagingBrain Structure and FunctionBrain sizeBiologyGeneticsImaging geneticsPopulationEvolutionary biologyDemographyMedicineNeuroscienceGenotypeGeneMagnetic resonance imaging

Abstract

fetched live from OpenAlex

Abstract Brain genetics is an active research area. The degree to which genetic variants impact variations in brain structure and function remains largely unknown. We examined the heritability of regional brain volumes (p ~ 100) captured by single-nucleotide polymorphisms (SNPs) in UK Biobank (n ~ 9000). We found that regional brain volumes are highly heritable in this study population. We observed omni-genic impact across the genome as well as enrichment of SNPs in active chromatin regions. Principal components derived from regional volume data are also highly heritable, but the amount of variance in brain volume explained by the component did not seem to be related to its heritability. Heritability estimates vary substantially across large-scale functional networks and brain regions. The variation in heritability across regions was not related to measurement reliability. Heritability estimates exhibit a symmetric pattern across left and right hemispheres and are consistent in females and males. Our main findings in UK Biobank are consistent with those in Alzheimers Disease Neuroimaging Initiative ( n ~ 1100), Philadelphia Neurodevelopmental Cohort ( n ~ 600), and Pediatric Imaging, Neurocognition, and Genetics ( n ~ 500) datasets, with more stable estimates in UK Biobank.

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)0.003
metaresearch head score (Gemma)0.011
Version: metacan-v3-hybrid-931329e0061cValidation 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 score0.007
Threshold uncertainty score0.018

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0030.011
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.000
Bibliometrics0.0010.001
Science and technology studies0.0000.001
Scholarly communication0.0010.000
Open science0.0000.001
Research integrity0.0000.000
Insufficient payload (model declined to judge)0.0020.000

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 head0.022
GPT teacher head0.272
Teacher spread0.250 · 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 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

Citations10
Published2017
Admission routes1
Has abstractyes

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