In one paragraphArticle in medRxiv : the preprint server for health sciences, 2025. 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
What 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
34 authors.
Lauren RekerleThe Jackson Laboratory for Genomic Medicine, 10 Discovery Drive, Farmington CT 06032, USA.ORCID 0000-0003-2598-6622 Viktor BilyCentre of Cardiovascular Surgery and Transplantation Brno and Faculty of Medicine, Masaryk University, Brno, Czech Republic.ORCID 0000-0002-1252-4659 Andrés Caballero-OteyzaClinic for Immunology and Rheumatology, Hanover Medical School, Hanover, Germany.ORCID 0000-0002-8892-1255 Pilar CacheiroWilliam Harvey Research Institute, Faculty of Medicine and Dentistry, Queen Mary University of London, Charterhouse Square, London EC1M 6BQ, UK.ORCID 0000-0002-6335-8208 Jessica X ChongDepartment of Pediatrics, Division of Genetic Medicine, University of Washington, 1959 NE Pacific Street, Box 357371, Seattle, WA 98195, USA.ORCID 0000-0002-1616-2448 Evan ConnellyDepartment of Genetics, University of North Carolina Chapel Hill, Chapel Hill, North Carolina, USA.ORCID 0009-0001-4998-8617 Bert Ba de VriesDepartment of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, the Netherlands.ORCID 0000-0002-0000-2917 Alexander Jm DingemansDepartment of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, the Netherlands.ORCID 0000-0002-5648-2155 Tomas FreibergerCentre of Cardiovascular Surgery and Transplantation Brno and Faculty of Medicine, Masaryk University, Brno, Czech Republic.ORCID 0000-0001-6532-7053 Tudor GrozaBioinformatics Institute, Agency for Science, Technology and Research (A*STAR), 30 Biopolis Street #07-01 Matrix, Singapore 138671, Singapore.ORCID 0000-0003-2267-8333 Julius O B JacobsenWilliam Harvey Research Institute, Faculty of Medicine and Dentistry, Queen Mary University of London, Charterhouse Square, London EC1M 6BQ, UK.ORCID 0000-0002-3265-1591 Adam KlocperkDepartment of Immunology, 2nd Faculty of Medicine, Charles University and University Hospital in Motol, Prague, Czech Republic.ORCID 0000-0002-1526-4557 Markus S LadewigDepartment of Ophthalmology, University Clinic Marburg - Campus Fulda, Fulda, Germany.ORCID 0000-0002-6601-4486 Michael I LoveDepartment of Genetics, University of North Carolina Chapel Hill, Chapel Hill, North Carolina, USA.ORCID 0000-0001-8401-0545 Allison J MarcelloDepartment of Pediatrics, Division of Genetic Medicine, University of Washington, 1959 NE Pacific Street, Box 357371, Seattle, WA 98195, USA.ORCID 0009-0002-4919-1752 Alexander MordhorstInstitute of Medical and Human Genetics, Charité Universitätsmedizin Berlin, Germany.ORCID 0009-0003-4447-0338 Monica C Munoz-TorresDepartment of Biomedical Informatics, University of Colorado Anschutz Medical Campus, Aurora, CO, 80045.ORCID 0000-0001-8430-6039 Justin ReeseDivision of Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, 1 Cyclotron Road, Berkeley CA 94720, USA.ORCID 0000-0002-2170-2250 Catharina SchützDepartment of Pediatrics, Faculty of Medicine and University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.ORCID 0009-0003-6519-0482 Damian SmedleyWilliam Harvey Research Institute, Faculty of Medicine and Dentistry, Queen Mary University of London, Charterhouse Square, London EC1M 6BQ, UK.ORCID 0000-0002-5836-9850 Timmy StraussDepartment of Pediatrics, Faculty of Medicine and University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.ORCID 0000-0001-9969-9517 Ondrej VladykaDepartment of Immunology, 2nd Faculty of Medicine, Charles University and University Hospital in Motol, Prague, Czech Republic.ORCID 0009-0000-1737-4234 David ZoccheNorth West Thames Regional Genetics Service, Northwick Park & St Mark's Hospitals, London, UK.ORCID 0000-0003-1390-0334 Christopher J MungallDivision of Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, 1 Cyclotron Road, Berkeley CA 94720, USA.ORCID 0000-0002-6601-2165 Melissa A HaendelThe Jackson Laboratory for Genomic Medicine, 10 Discovery Drive, Farmington CT 06032, USA.ORCID 0000-0001-9114-8737 Peter N RobinsonDepartment of Genetics, University of North Carolina Chapel Hill, Chapel Hill, North Carolina, USA.ORCID 0000-0002-0736-9199 Funding
Improvements to the LinkML framework to support the Phenomics First open science resourceRM1HG010860 · NHGRI · UNIV OF NORTH CAROLINA CHAPEL HILL · PI HAENDEL, MELISSA A, MUNGALL, CHRISTOPHER J · 2020 to 2024
$10.3MThe Human Phenotype Ontology: Accelerating Computational Integration of Clinical Data for GenomicsU24HG011449 · NHGRI · JACKSON LABORATORY · PI Peter Nicholas Robinson · 2021 to 2026
$6.7MA next-generation morbid map of the human genomeR35HG011297 · NHGRI · UNIVERSITY OF WASHINGTON · PI CHONG, JESSICA XIAO-LING · 2020 to 2024
$2.2MNHGRI NIH HHS R35 HG011297NHGRI NIH HHS RM1 HG010860NHGRI NIH HHS U24 HG011449
6 · The paper itselfAbstract
Comprehensively characterizing genotype-phenotype correlations (GPCs) in Mendelian disease would create new opportunities for improving clinical management and understanding disease biology. However, heterogeneous approaches to data sharing, reuse, and analysis have hindered progress in the field. We developed Genotype Phenotype Evaluation of Statistical Association (GPSEA), a software package that leverages the Global Alliance for Genomics and Health (GA4GH) Phenopacket Schema to represent case-level clinical and genetic data about individuals. GPSEA applies an independent filtering strategy to boost statistical power to detect categorical GPCs represented by Human Phenotype Ontology terms. GPSEA additionally enables visualization and analysis of continuous phenotypes, clinical severity scores, and survival data such as age of onset of disease or clinical manifestations. We applied GPSEA to 85 cohorts with 6613 previously published individuals with variants in one of 80 genes associated with 122 Mendelian diseases and identified 225 significant GPCs, with 48 cohorts having at least one statistically significant GPC. These results highlight the power of standardized representations of clinical data for scalable discovery of GPCs in Mendelian disease.
Identifiers
PMID40093222
PMCPMC11908317
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