Evidence map›Paper›PMID 42156563›Full record

ArticleNature genetics2026

Patterns and drivers of 43,617 mosaic chromosomal alterations in blood.

David Tang, Nolan Kamitaki, Ronen E Mukamel, Simone Rubinacci, Po-Ru Loh

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Nature genetics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing 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

3 citing papers in PubMed.

  1. Article
  2. Article
  3. Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

5 authors.

David TangDepartment of Biomedical Informatics, Harvard Medical School, Boston, MA, USA. davidtang@g.harvard.edu.ORCID http://orcid.org/0000-0003-1174-7700
Nolan KamitakiDepartment of Biomedical Informatics, Harvard Medical School, Boston, MA, USA.ORCID http://orcid.org/0000-0003-0614-0189
Ronen E MukamelDivision of Genetics, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA.
Simone RubinacciDivision of Genetics, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA.
Po-Ru LohDivision of Genetics, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA. poruloh@broadinstitute.org.ORCID http://orcid.org/0000-0001-5542-9064

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Clonal expansions of hematopoietic cells carrying mosaic chromosomal alterations (mCAs) are commonly detectable in elderly individuals. Here we studied 43,617 autosomal mCAs ascertained in 484,081 UK Biobank participants using new, high-resolution computational methods to analyze blood-derived, whole-genome sequencing data. Shorter mCAs (≤1 Mb) clustered at 53 genomic hotspots (46 previously undetected), several of which implicated chromosomal fragile sites as a recurrent source of somatic deletions. Chronic lymphocytic leukemia (CLL)-associated deletions at 13q14 were detectable in 1% of individuals aged 65-70 years, suggesting opportunities for incorporating this mosaic mutation into clinical screening and in genetic association studies of CLL. Rare protein-coding variants in 38 genes associated (P < 1.2 × 10

Indexed as

Chromosome AberrationsLeukemia, Lymphocytic, Chronic, B-CellMosaicismAgedFemaleHumansLoss of HeterozygosityMutationWhole Genome Sequencing

Identifiers

PMID42156563
PMCPMC13263154

What OpenQuestion holds

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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.