Article in Nature communications, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it
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 registry
The 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.
David PorubskyDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.ORCID 0000-0001-8414-8966
DongAhn YooDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.ORCID 0000-0003-0033-3721
Nidhi KoundinyaDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.ORCID 0009-0008-7155-1287
Erika SoucheLaboratory of Cytogenetics and Genome Research, Centre for Human Genetics, KU Leuven, Leuven, Belgium.ORCID 0000-0001-9184-445X
Philip C DishuckDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.ORCID 0000-0003-2223-9787
Nicolas DierckxsensGenomics and Regulatory Systems Unit & Marine Climate Change Unit, Okinawa Institute of Science and Technology Graduate University, Okinawa, Japan.ORCID 0000-0001-8051-6602
William T HarveyDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.ORCID 0000-0003-0646-7528
Katherine M MunsonDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.ORCID 0000-0001-8413-6498
Kendra HoekzemaDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
Daniel D ChanTerry Fox Laboratory, BC Cancer Research Institute, Vancouver, BC, Canada.
Tiffany Y LeungTerry Fox Laboratory, BC Cancer Research Institute, Vancouver, BC, Canada.
Marta S SantosLaboratory of Cytogenetics and Genome Research, Centre for Human Genetics, KU Leuven, Leuven, Belgium.
Senne MeynantsLaboratory of Cytogenetics and Genome Research, Centre for Human Genetics, KU Leuven, Leuven, Belgium.ORCID 0009-0006-7055-3737
Ann SwillenDepartment of Human Genetics, Centre for Human Genetics, University Hospitals Leuven, Leuven, Belgium.ORCID 0000-0003-4258-4537
Jeroen BreckpotDepartment of Human Genetics, Centre for Human Genetics, University Hospitals Leuven, Leuven, Belgium.
Patrick HasenfeldEuropean Molecular Biology Laboratory (EMBL), Genome Biology Unit, Heidelberg, Germany.
Jan O KorbelEuropean Molecular Biology Laboratory (EMBL), Genome Biology Unit, Heidelberg, Germany.ORCID 0000-0002-2798-3794
Human Pangenome Reference Consortium
Peter M LansdorpTerry Fox Laboratory, BC Cancer Research Institute, Vancouver, BC, Canada.ORCID 0000-0001-7435-1071
Joris R VermeeschLaboratory of Cytogenetics and Genome Research, Centre for Human Genetics, KU Leuven, Leuven, Belgium.ORCID 0000-0002-3071-1191
Evan E EichlerDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA. ee3@uw.edu.ORCID 0000-0002-8246-4014
Funding
ELSI Administrative Supplement - Center for Human Reference Genome DiversityU01HG010971 · NHGRI · UNIVERSITY OF CALIFORNIA SANTA CRUZ · PI EICHLER, EVAN, JARVIS, ERICH D · 2019 to 2023
$18.4M
Center for Human Genome Reference DiversityUM1HG010971 · NHGRI · UNIVERSITY OF CALIFORNIA SANTA CRUZ · PI Robert Mullan Cook-Deegan, Evan Eichler · 2024 to 2026
$8.6M
Sequence-resolved structural variation of human genomesR01HG010169 · NHGRI · UNIVERSITY OF WASHINGTON · PI Evan Eichler · 2018 to 2026
$4.5M
Canada Foundation for Innovation (Fondation canadienne pour l'innovation) 40044Canada Foundation for Innovation (Fondation canadienne pour l'innovation) 43153Fonds Wetenschappelijk Onderzoek (Research Foundation Flanders) G0A2622NHoward Hughes Medical Institute (HHMI) N/AKU Leuven (Katholieke Universiteit Leuven) C14/22/125NHGRI NIH HHS R01 HG010169NHGRI NIH HHS U01 HG010971NHGRI NIH HHS UM1 HG010971Terry Fox Research Institute (Institut de Recherche Terry Fox) 1074U.S. Department of Health & Human Services | NIH | National Human Genome Research Institute (NHGRI) HG007497U.S. Department of Health & Human Services | NIH | National Human Genome Research Institute (NHGRI) HG010169U.S. Department of Health & Human Services | NIH | National Human Genome Research Institute (NHGRI) HG010971
6 · The paper itself
Abstract
Chromosome 22q11.2 microdeletion syndrome (22q11.2DS) is mediated by high-identity polymorphic low-copy repeats (LCRA-to-D) that have been challenging to sequence characterize. We sequence-resolved 135 chromosome 22q11.2 haplotypes from diverse humans and define 63 distinct structural configurations differing in size by 11-fold for LCRA. This diversity is driven by a 105 kbp segmental duplication flanked by 25 kbp inverted repeats that arose in the apes but expanded in humans ~1 million years ago. African LCRA haplotypes are significantly longer (p = 0.0047) and predicted to be more protective against 22q11.2DS (p = 1.14×10
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.
Population differences of chromosome 22q11.2 duplication structure predispose differentially to microdeletion and inversion. · full record | OpenQuestion