Evidence map›Paper›PMID 40884643›Full record

ArticleMethods in molecular biology (Clifton, N.J.)2025

Combination of Long-Read Sequencing and Hi-C Technology to Identify Chromoanagenesis Events in Cancer.

Marius-Konstantin Klever, Julius Jungnitsch, Lars Bullinger

Abstract read
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Article in Methods in molecular biology (Clifton, N.J.), 2025. 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.

No citing paper in PubMed yet.

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

3 authors.

Marius-Konstantin KleverDivision of Hematology, Oncology, and Cancer Immunology, Medical Department, Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Berlin, Germany. marius-konstantin.klever.01@regionh.dk.
Julius JungnitschInstitute for Medical Genetics and Human Genetics, Charité University Medicine Berlin, Berlin, Germany.
Lars BullingerDivision of Hematology, Oncology, and Cancer Immunology, Medical Department, Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Berlin, Germany.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Structural variants are of major importance in cancer genetics. Especially when it comes to the detection of complex structural variants as in chromoanagenesis, detection tools like array-CGH, karyotyping, or even whole-genome sequencing do not provide the necessary resolution and/or accuracy. Here, we present a novel structural variant (SV) detection workflow that integrates genomic DNA (gDNA) long-read sequencing and Hi-C sequencing. With this workflow, high-confident SV calling at very high resolution can be archived. Applying it to a cohort of acute myeloid leukemia (AML) with a complex karyotype led to new insights about the actual complexity of chromoanagenesis and can enhance subsequent functional studies of the underlying pathomechanisms.

Indexed as

High-Throughput Nucleotide SequencingLeukemia, Myeloid, AcuteNeoplasmsSequence Analysis, DNAGenomicsHumansAcute myeloid leukemia (AML)ChromoanagenesisChromothripsisComplex karyotypeHi-CLong-read sequencingStructural variants (SV)

Identifiers

PMID40884643

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.