ArticlebioRxiv : the preprint server for biology2024
Characterizing substructure via mixture modeling in large-scale genetic summary statistics.
Hayley R Stoneman, Adelle Price, Nikole Scribner Trout, Riley Lamont, Souha Tifour, Nikita Pozdeyev, Colorado Center for Personalized Medicine, Kristy Crooks, Meng Lin, Nicholas Rafaels and 3 more
Abstract readPreprint
In one paragraphArticle in bioRxiv : the preprint server for biology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from itWhat it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
2 · The registryThe trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
3 · Its place in the literatureWho cites it
0 citing papers in PubMed.
No citing paper in PubMed yet.
4 · The recordCorrections and comments
5 · Who and what moneyAuthors and funding
13 authors.
Hayley R StonemanDepartment of Biomedical Informatics, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.ORCID 0000-0002-3796-2284 Adelle PriceDepartment of Biomedical Informatics, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.
Nikole Scribner TroutDepartment of Biomedical Informatics, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.
Riley LamontMathematical and Statistical Sciences, University of Colorado Denver, Denver, CO 80204, USA.
Souha TifourDepartment of Biomedical Informatics, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.
Nikita PozdeyevColorado Center for Personalized Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.ORCID 0000-0001-8574-1972 Colorado Center for Personalized Medicine
Kristy CrooksColorado Center for Personalized Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.ORCID 0000-0001-8263-096X Meng LinDepartment of Biomedical Informatics, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.
Nicholas RafaelsColorado Center for Personalized Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.ORCID 0000-0002-2024-629X Christopher R GignouxDepartment of Biomedical Informatics, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.ORCID 0000-0001-9728-6567 Katie M MarkerDepartment of Biomedical Informatics, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.ORCID 0000-0003-3441-401X Audrey E HendricksDepartment of Biomedical Informatics, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.ORCID 0000-0002-7152-0287 Funding
PRS Center for Admixed Populations (CAPE)U01HG011715 · NHGRI · UNIVERSITY OF PENNSYLVANIA · PI Eimear Elizabeth Kenny, Leslie A Lange · 2021 to 2026
$5.2MGenomic Approaches to Population Health in Multi-Ethnic Hospital SystemsR01HG011345 · NHGRI · UNIVERSITY OF COLORADO DENVER · PI ARBOLEDA, VALERIE A, GIGNOUX, CHRISTOPHER R · 2020 to 2023
$3.1MMethods to enable robust and efficient use of genetic summary dataR35HG011293 · NHGRI · UNIVERSITY OF COLORADO DENVER · PI HENDRICKS, AUDREY E · 2020 to 2024
$2.1MResearch experience pathways in genomic data science (PATH-GDS) for underrepresented groupsR25HG012919 · NHGRI · UNIVERSITY OF COLORADO DENVER · PI Joshua P French, Audrey E Hendricks · 2023 to 2026
$1.1MNHGRI NIH HHS R01 HG011345NHGRI NIH HHS R35 HG011293NHGRI NIH HHS U01 HG011715
6 · The paper itselfAbstract
Genetic summary data are broadly accessible and highly useful including for risk prediction, causal inference, fine mapping, and incorporation of external controls. However, collapsing individual-level data into groups masks intra- and inter-sample heterogeneity, leading to confounding, reduced power, and bias. Ultimately, unaccounted substructure limits summary data usability, especially for understudied or admixed populations. Here, we present
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PMID38766180
PMCPMC11100604
What Socratic holds
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