Evidence map›Paper›PMID 41137035›Full record

ArticleGenome biology2025

ParaMask: a new method to identify multicopy genomic regions, corrects major biases in whole-genome sequencing data.

Bastiaan Tjeng, Male Arimond, Helene Bråten Grindeland, Andrea Dalla Libera, Andrea Fulgione

Abstract read
In one paragraph

Article in Genome biology, 2025. 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
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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

5 authors.

Bastiaan TjengMax Planck Institute for Plant Breeding Research, Carl-von-Linne-Weg 10, 50829, Cologne, Germany.
Male ArimondMax Planck Institute for Plant Breeding Research, Carl-von-Linne-Weg 10, 50829, Cologne, Germany.
Helene Bråten GrindelandMax Planck Institute for Plant Breeding Research, Carl-von-Linne-Weg 10, 50829, Cologne, Germany.
Andrea Dalla LiberaMax Planck Institute for Plant Breeding Research, Carl-von-Linne-Weg 10, 50829, Cologne, Germany.
Andrea FulgioneMax Planck Institute for Plant Breeding Research, Carl-von-Linne-Weg 10, 50829, Cologne, Germany. fulgione@mpipz.mpg.de.

Funding

Deutsche Forschungsgemeinschaft 456082119 - TRR 341/1
6 · The paper itself

Abstract

Multicopy genomic regions are repeated sequences that can bias genomic analyses. Here, we present a method, ParaMask, to identify and filter multicopy regions in population-level genomic data of any species. The broad applicability of this method stems from a flexible Expectation-Maximization framework to detect excess heterozygosity while simultaneously fitting inbreeding levels. By combining this signature with read-ratio deviations, excess sequencing depth, and a clustering technique, our method attains high recall. We show that multicopy regions create biases that confound evolutionary genomic analyses and that by identifying these regions with our method and filtering them, we can correct these biases.

Indexed as

GenomicsWhole Genome SequencingAlgorithmsAnimalsGenomeDuplicationsGenomicsMulticopy regionsParalogsRepetitive sequencesTransposable elements

Identifiers

PMID41137035
PMCPMC12551310

What Socratic holds

Textmetadata
LicenceCC BY
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 Socratic graph.