Evidence map›Paper›PMID 36778285›Full record

ArticlemedRxiv : the preprint server for health sciences2023

Population analyses of mosaic X chromosome loss identify genetic drivers and widespread signatures of cellular selection.

Aoxing Liu, Giulio Genovese, Yajie Zhao, Matti Pirinen, Maryam M Zekavat, Katherine Kentistou, Zhiyu Yang, Kai Yu, Caitlyn Vlasschaert, Xiaoxi Liu and 31 more

Open access · greenAbstract readPreprint
PubMed Full text at PMC Publisher
In one paragraph

Article in medRxiv : the preprint server for health sciences, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed, 6 citations in OpenAlex.

  1. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

41 authors at 12 institutions in 6 countries.

Aoxing LiuInstitute for Molecular Medicine Finland (FIMM), HiLIFE, University of Helsinki, Helsinki, Finland.
Giulio GenoveseProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Yajie ZhaoMRC Epidemiology Unit, Institute of Metabolic Science, University of Cambridge, Cambridge, UK.
Matti PirinenInstitute for Molecular Medicine Finland (FIMM), HiLIFE, University of Helsinki, Helsinki, Finland.
Maryam M ZekavatProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Katherine KentistouMRC Epidemiology Unit, Institute of Metabolic Science, University of Cambridge, Cambridge, UK.
Zhiyu YangInstitute for Molecular Medicine Finland (FIMM), HiLIFE, University of Helsinki, Helsinki, Finland.
Kai YuDivision of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD, USA.
Caitlyn VlasschaertDepartment of Medicine, Queen's University, Kingston, ON, Canada.
Xiaoxi LiuLaboratory for Statistical and Translational Genetics, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan.
Derek W BrownDivision of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD, USA.
Georgi HudjashovEstonian Genome Centre, Institute of Genomics, University of Tartu, Tartu, Estonia.
Bryan GormanCenter for Data and Computational Sciences (C-DACS), VA Cooperative Studies Program, VA Boston Healthcare System, Boston, MA, USA.
Joe DennisCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Weiyin ZhouDivision of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD, USA.
Yukihide MomozawaLaboratory for Genotyping Development, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan.
Saiju PyarajanCenter for Data and Computational Sciences (C-DACS), VA Cooperative Studies Program, VA Boston Healthcare System, Boston, MA, USA.
Vlad TuzovEstonian Genome Centre, Institute of Genomics, University of Tartu, Tartu, Estonia.
Fanny-Dhelia PajusteEstonian Genome Centre, Institute of Genomics, University of Tartu, Tartu, Estonia.
Mervi AavikkoInstitute for Molecular Medicine Finland (FIMM), HiLIFE, University of Helsinki, Helsinki, Finland.
Timo P SipiläInstitute for Molecular Medicine Finland (FIMM), HiLIFE, University of Helsinki, Helsinki, Finland.
Awaisa GhazalInstitute for Molecular Medicine Finland (FIMM), HiLIFE, University of Helsinki, Helsinki, Finland.
Wen-Yi HuangDivision of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD, USA.
Neal FreedmanDivision of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD, USA.
Lei SongDivision of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD, USA.
Eugene J GardnerMRC Epidemiology Unit, Institute of Metabolic Science, University of Cambridge, Cambridge, UK.
Vijay G SankaranProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Aarno PalotieInstitute for Molecular Medicine Finland (FIMM), HiLIFE, University of Helsinki, Helsinki, Finland.
Hanna M OllilaInstitute for Molecular Medicine Finland (FIMM), HiLIFE, University of Helsinki, Helsinki, Finland.
Taru TukiainenInstitute for Molecular Medicine Finland (FIMM), HiLIFE, University of Helsinki, Helsinki, Finland.
Stephen J ChanockDivision of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD, USA.
Reedik MägiEstonian Genome Centre, Institute of Genomics, University of Tartu, Tartu, Estonia.
Pradeep NatarajanProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Mark J DalyInstitute for Molecular Medicine Finland (FIMM), HiLIFE, University of Helsinki, Helsinki, Finland.
Alexander BickDivision of Genetic Medicine, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.
Steven A McCarrollProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Chikashi TeraoLaboratory for Statistical and Translational Genetics, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan.
Po-Ru LohProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Andrea GannaInstitute for Molecular Medicine Finland (FIMM), HiLIFE, University of Helsinki, Helsinki, Finland.
John R B PerryMRC Epidemiology Unit, Institute of Metabolic Science, University of Cambridge, Cambridge, UK.
Mitchell J MachielaDivision of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD, USA.
Broad Institute · USNational Cancer Institute · USUniversity of Cambridge · GBUniversity of Helsinki · FIUniversity of Tartu · EERIKEN Center for Integrative Medical Sciences · JPBooz Allen Hamilton (United States) · USBrigham and Women's Hospital · USNatural Sciences and Engineering Research Council of Canada · CAQueen's University · CAStatistics Finland · FIUniversity of Shizuoka · JP

Funding

African Ancestry Genomic Psychiatry CohortR01MH104964 · NIMH · SUNY DOWNSTATE MEDICAL CENTER · PI BIGDELI, TIM BERNARD, FANOUS, AYMAN H · 2015 to 2024
$16.7M
Latino Ancestry Genomic Psychiatry CohortR01MH123451 · NIMH · SUNY DOWNSTATE MEDICAL CENTER · PI BIGDELI, TIM BERNARD, FANOUS, AYMAN H · 2020 to 2025
$7.1M
Revealing somatic genome alterations and their clinical sequelae: Ultrasensitive computational detection of mosaic structural variantsDP2ES030554 · NIEHS · BRIGHAM AND WOMEN'S HOSPITAL · PI LOH, PO-RU · 2018 to 2018
$2.7M
NIEHS NIH HHS DP2 ES030554NIMH NIH HHS R01 MH104964NIMH NIH HHS R01 MH123451
6 · The paper itself

Abstract

Mosaic loss of the X chromosome (mLOX) is the most commonly occurring clonal somatic alteration detected in the leukocytes of women, yet little is known about its genetic determinants or phenotypic consequences. To address this, we estimated mLOX in >900,000 women across eight biobanks, identifying 10% of women with detectable X loss in approximately 2% of their leukocytes. Out of 1,253 diseases examined, women with mLOX had an elevated risk of myeloid and lymphoid leukemias and pneumonia. Genetic analyses identified 49 common variants influencing mLOX, implicating genes with established roles in chromosomal missegregation, cancer predisposition, and autoimmune diseases. Complementary exome-sequence analyses identified rare missense variants in

Identifiers

PMID36778285
PMCPMC9915812
OpenAlexW4318699676

What OpenQuestion holds

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LicenceCC BY-NC-ND
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Registered trials

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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.