Evidence map›Paper›PMID 39657946›Full record

ArticleBioinformatics (Oxford, England)2024

Identification and annotation of centromeric hypomethylated regions with CDR-Finder.

Francesco Kumara Mastrorosa, Keisuke K Oshima, Allison N Rozanski, William T Harvey, Evan E Eichler, Glennis A Logsdon

Abstract read
In one paragraph

Article in Bioinformatics (Oxford, England), 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.

0numbers the graph read from it
0cells of the map it votes in
14citing 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

14 citing papers in PubMed.

  1. Article
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  7. A complete human pancreatic cancer genome.bioRxiv : the preprint server for biology · 2026
    Article
  8. Article
  9. Article
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  11. bioRxiv : the preprint server for biology · 2026
    Article
  12. A global view of human centromere variation and evolution.bioRxiv : the preprint server for biology · 2025
    Article
  13. Article
  14. Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

6 authors.

Francesco Kumara MastrorosaDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, United States.ORCID 0000-0003-0579-1895
Keisuke K OshimaDepartment of Genetics, Epigenetics Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, United States.ORCID 0009-0002-2229-8998
Allison N RozanskiDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, United States.ORCID 0000-0002-5034-1773
William T HarveyDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, United States.ORCID 0000-0003-0646-7528
Evan E EichlerDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, United States.ORCID 0000-0002-8246-4014
Glennis A LogsdonDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, United States.ORCID 0000-0003-2396-0656

Funding

Sequence-resolved structural variation of human genomesR01HG010169 · NHGRI · UNIVERSITY OF WASHINGTON · PI Evan Eichler · 2018 to 2026
$4.5M
Human centromere variation and functionR00GM147352 · NIGMS · UNIVERSITY OF PENNSYLVANIA · PI Glennis Amelia Logsdon · 2024 to 2026
$747k
NHGRI NIH HHS R01 HG010169NIGMS NIH HHS R00 GM147352NIH HHS R01HG010169
6 · The paper itself

Abstract

motivationCentromeres are chromosomal regions historically understudied with sequencing technologies due to their repetitive nature and short-read mapping limitations. However, recent improvements in long-read sequencing allow for the investigation of complex regions of the genome at the sequence and epigenetic levels.

resultsHere, we present Centromere Dip Region (CDR)-Finder: a tool to identify regions of hypomethylation within the centromeres of high-quality, contiguous genome assemblies. These regions are typically associated with a unique type of chromatin containing the histone H3 variant CENP-A, which marks the location of the kinetochore. CDR-Finder identifies the CDRs in large and short centromeres and generates a BED file indicating the location of the CDRs within the centromere. It also outputs a plot for visualization, validation, and downstream analysis. AVAILABILITY AND IMPLEMENTATION: CDR-Finder is available at https://github.com/EichlerLab/CDR-Finder.

Indexed as

CentromereDNA MethylationSoftwareCentromere Protein AHumansMolecular Sequence AnnotationSequence Analysis, DNACentromere Protein A

Identifiers

PMID39657946
PMCPMC11663805

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LicenceCC BY
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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.