Evidence map›Paper›PMID 39883620›Full record

ArticlePloS one2025

Fast and accurate imputation of genotypes from noisy low-coverage sequencing data in bi-parental populations.

Cécile Triay, Alice Boizet, Christopher Fragoso, Anestis Gkanogiannis, Jean-François Rami, Mathias Lorieux

Abstract read
In one paragraph

Article in PloS one, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

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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

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3 · Its place in the literature

Who cites it

4 citing papers in PubMed.

  1. Article
  2. Article
  3. Review
  4. Genotype imputation for soybean nested association mapping population to improve precision of QTL detection.TAG. Theoretical and applied genetics. Theoretische und angewandte Genetik · 2022
    Article
4 · The record

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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

6 authors.

Cécile TriayDIADE, IRD, Cirad, University of Montpellier, Montpellier, France.ORCID 0000-0002-7339-0762
Alice BoizetAGAP, Cirad, INRAE, Montpellier SupAgro, University of Montpellier, Montpellier, France.ORCID 0000-0003-4096-6689
Christopher FragosoVerinomics, Inc., New Haven, CT, United States of America.ORCID 0000-0001-5330-2588
Anestis GkanogiannisAgrobiotechnology Unit, Alliance Bioversity-CIAT, International Center for Tropical Agriculture, Cali, Colombia.ORCID 0000-0002-6441-0688
Jean-François RamiAGAP, Cirad, INRAE, Montpellier SupAgro, University of Montpellier, Montpellier, France.ORCID 0000-0002-5679-3877
Mathias LorieuxDIADE, IRD, Cirad, University of Montpellier, Montpellier, France.ORCID 0000-0001-9864-3933

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

motivationGenotyping of bi-parental populations can be performed with low-coverage next-generation sequencing (LC-NGS). This allows the creation of highly saturated genetic maps at reasonable cost, precisely localized recombination breakpoints (i.e., the crossovers), and minimized mapping intervals for quantitative-trait locus analysis. The main issues with these low-coverage genotyping methods are (1) poor performance at heterozygous loci, (2) high percentage of missing data, (3) local errors due to erroneous mapping of sequencing reads and reference genome mistakes, and (4) global, technical errors inherent to NGS itself. Recent methods like Tassel-FSFHap or LB-Impute are excellent at addressing issues 1 and 2, but nonetheless perform poorly when issues 3 and 4 are persistent in a dataset (i.e., "noisy" data). Here, we present a new algorithm for imputation of LC-NGS data that eliminates the need of complex pre-filtering of noisy data, accurately types heterozygous chromosomal regions, precisely estimates crossover positions, corrects erroneous data, and imputes missing data. The imputation of genotypes and recombination breakpoints is based on maximum-likelihood estimation. We compare its performance with Tassel-FSFHap and LB-Impute using simulated data and two real datasets. NOISYmputer is consistently more efficient than the two other software tested and reaches average breakpoint precision of 99.9% and average recall of 99.6% on illumina simulated dataset. NOISYmputer consistently provides precise map size estimations when applied to real datasets while alternative tools may exhibit errors ranging from 3 to 1845 times the real size of the chromosomes in centimorgans. Furthermore, the algorithm is not only highly effective in terms of precision and recall but is also particularly economical in its use of RAM and computation time, being much faster than Hidden Markov Model methods. AVAILABILITY: NOISYmputer and its source code are available as a multiplatform (Linux, macOS, Windows) Java executable at the URL https://gitlab.cirad.fr/noisymputer/noisymputerstandalone/-/tree/1.0.0-RELEASE?reftype=tags.

Indexed as

GenotypeHigh-Throughput Nucleotide SequencingAlgorithmsHumansQuantitative Trait LociRecombination, GeneticSoftware

Identifiers

PMID39883620
PMCPMC11781708

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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.