Evidence map›Paper›PMID 34941872›Full record

ArticlePLoS genetics2021

Increasing calling accuracy, coverage, and read-depth in sequence data by the use of haplotype blocks.

Torsten Pook, Adnane Nemri, Eric Gerardo Gonzalez Segovia, Daniel Valle Torres, Henner Simianer, Chris-Carolin Schoen

Abstract read
In one paragraph

Article in PLoS genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing 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

5 citing papers in PubMed.

  1. Genetic dissection of grain yield and correlated proxy traits under suboptimal conditions.TAG. Theoretical and applied genetics. Theoretische und angewandte Genetik · 2026
    Article
  2. Article
  3. Review
  4. Genotyping of SNPs in bread wheat at reduced cost from pooled experiments and imputation.TAG. Theoretical and applied genetics. Theoretische und angewandte Genetik · 2024
    Article
  5. Article
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

6 authors.

Torsten PookCenter for Integrated Breeding Research, Animal Breeding and Genetics Group, University of Goettingen, Goettingen, Germany.ORCID 0000-0001-7874-8500
Adnane NemriKWS SAAT SE & Co. KGaA, Einbeck, Germany.
Eric Gerardo Gonzalez SegoviaPlant Breeding, Technical University of Munich, TUM School of Life Sciences Weihenstephan, Freising, Germany.ORCID 0000-0001-5598-0235
Daniel Valle TorresPlant Breeding, Technical University of Munich, TUM School of Life Sciences Weihenstephan, Freising, Germany.ORCID 0000-0002-5368-734X
Henner SimianerCenter for Integrated Breeding Research, Animal Breeding and Genetics Group, University of Goettingen, Goettingen, Germany.ORCID 0000-0002-7551-3797
Chris-Carolin SchoenPlant Breeding, Technical University of Munich, TUM School of Life Sciences Weihenstephan, Freising, Germany.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

High-throughput genotyping of large numbers of lines remains a key challenge in plant genetics, requiring geneticists and breeders to find a balance between data quality and the number of genotyped lines under a variety of different existing genotyping technologies when resources are limited. In this work, we are proposing a new imputation pipeline ("HBimpute") that can be used to generate high-quality genomic data from low read-depth whole-genome-sequence data. The key idea of the pipeline is the use of haplotype blocks from the software HaploBlocker to identify locally similar lines and subsequently use the reads of all locally similar lines in the variant calling for a specific line. The effectiveness of the pipeline is showcased on a dataset of 321 doubled haploid lines of a European maize landrace, which were sequenced at 0.5X read-depth. The overall imputing error rates are cut in half compared to state-of-the-art software like BEAGLE and STITCH, while the average read-depth is increased to 83X, thus enabling the calling of copy number variation. The usefulness of the obtained imputed data panel is further evaluated by comparing the performance of sequence data in common breeding applications to that of genomic data generated with a genotyping array. For both genome-wide association studies and genomic prediction, results are on par or even slightly better than results obtained with high-density array data (600k). In particular for genomic prediction, we observe slightly higher data quality for the sequence data compared to the 600k array in the form of higher prediction accuracies. This occurred specifically when reducing the data panel to the set of overlapping markers between sequence and array, indicating that sequencing data can benefit from the same marker ascertainment as used in the array process to increase the quality and usability of genomic data.

Indexed as

Genotyping TechniquesSoftwareDNA Copy Number VariationsGenomeGenome-Wide Association StudyGenomicsGenotypeHaplotypesPolymorphism, Single NucleotideWhole Genome SequencingZea mays

Identifiers

PMID34941872
PMCPMC8699914

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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.