Evidence map›Paper›PMID 38370823›Full record

ArticlemedRxiv : the preprint server for health sciences2024

Increased Frequency of Clonal Hematopoiesis of Indeterminate Potential in Bloom Syndrome Probands and Carriers.

Isabella Lin, Angela Wei, Tsumugi A Gebo, P C Boutros, Maeve Flanagan, Nicole Kucine, C Cunniff, V A Arboleda, V Y Chang

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

Article in medRxiv : the preprint server for health sciences, 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 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

0 citing papers in PubMed, 0 citations in OpenAlex.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

9 authors at 3 institutions in 1 country.

Isabella LinDepartment of Human Genetics, David Geffen School of Medicine, UCLA, Los Angeles, CA, USA.ORCID 0000-0002-7102-6879
Angela WeiDepartment of Human Genetics, David Geffen School of Medicine, UCLA, Los Angeles, CA, USA.ORCID 0000-0001-6847-9423
Tsumugi A GeboJonsson Comprehensive Cancer Center, UCLA, Los Angeles, CA.ORCID 0000-0001-8299-1482
P C BoutrosDepartment of Human Genetics, David Geffen School of Medicine, UCLA, Los Angeles, CA, USA.ORCID 0000-0003-0553-7520
Maeve FlanaganDepartment of Pediatrics, Weill Cornell Medicine, New York, NY.
Nicole KucineDepartment of Pediatrics, Weill Cornell Medicine, New York, NY.ORCID 0000-0002-4865-4033
C CunniffDepartment of Pediatrics, Weill Cornell Medicine, New York, NY.ORCID 0000-0002-6041-477X
V A ArboledaDepartment of Human Genetics, David Geffen School of Medicine, UCLA, Los Angeles, CA, USA.ORCID 0000-0002-9687-9122
V Y ChangJonsson Comprehensive Cancer Center, UCLA, Los Angeles, CA.ORCID 0000-0002-4538-1500
University of California, Los Angeles · USCornell University · USChildren’s Institute · US

Funding

UCLA-Caltech Medical Scientist Training ProgramT32GM008042 · NIGMS · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI AJIJOLA, OLUJIMI A, DAWSON, DAVID WAYNE · 1985 to 2023
$29.9M
Unraveling correlations between Mendelian and common disease using functional genomicsDP5OD024579 · OD · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI ARBOLEDA, VALERIE A · 2017 to 2021
$1.9M
Regulation of Stem Cell Aging and Cancer by the Vascular NicheK08HL138305 · NHLBI · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI CHANG, VIVIAN Y-J · 2017 to 2021
$891k
NHLBI NIH HHS K08 HL138305NIGMS NIH HHS T32 GM008042NIH HHS DP5 OD024579
6 · The paper itself

Abstract

Background: Bloom Syndrome (BSyn) is an autosomal recessive disorder caused by biallelic germline variants in Methods: To determine whether Results: We discovered that both BSyn patients and carriers had increased numbers of low-frequency, putative somatic variants in CHIP genes compared to controls. Furthermore, BLM variant carriers had increased numbers of somatic variants in DNA methylation genes compared to controls. There was no statistical difference in the numbers of Conclusion: Our findings of increased CHIP in BSyn probands and carriers suggest that one or two germline pathogenic variants in

Identifiers

PMID38370823
PMCPMC10871368
OpenAlexW4391557590

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
Read underepoch 390

Registered trials

None linked

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.