Evidence map›Paper›PMID 39670731›Full record

ArticleG3 (Bethesda, Md.)2025

A cost-effective, high-throughput, highly accurate genotyping method for outbred populations.

Denghui Chen, Apurva S Chitre, Khai-Minh H Nguyen, Katerina A Cohen, Beverly F Peng, Kendra S Ziegler, Faith Okamoto, Bonnie Lin, Benjamin B Johnson, Thiago M Sanches and 3 more

Abstract read
In one paragraph

Article in G3 (Bethesda, Md.), 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.

0numbers the graph read from it
0cells of the map it votes in
10citing 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

10 citing papers in PubMed.

  1. Article
  2. Article
  3. Article
  4. Article
  5. Article
  6. Article
  7. Article
  8. Low-coverage whole-genome sequencing facilitates accurate and cost-effective haplotype reconstruction in complex mouse crosses.Mammalian genome : official journal of the International Mammalian Genome Society · 2025
    Article
  9. Article
  10. Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

13 authors.

Denghui ChenBioinformatics and System Biology Program, University of California San Diego, La Jolla, CA 92093, USA.ORCID 0000-0002-6541-3418
Apurva S ChitreBioinformatics and System Biology Program, University of California San Diego, La Jolla, CA 92093, USA.ORCID 0000-0003-1709-9214
Khai-Minh H NguyenDepartment of Psychiatry, University of California San Diego, La Jolla, CA 92093, USA.
Katerina A CohenDepartment of Psychiatry, University of California San Diego, La Jolla, CA 92093, USA.
Beverly F PengDepartment of Psychiatry, University of California San Diego, La Jolla, CA 92093, USA.
Kendra S ZieglerDepartment of Psychiatry, University of California San Diego, La Jolla, CA 92093, USA.
Faith OkamotoDepartment of Psychiatry, University of California San Diego, La Jolla, CA 92093, USA.
Bonnie LinDepartment of Psychiatry, University of California San Diego, La Jolla, CA 92093, USA.
Benjamin B JohnsonDepartment of Psychiatry, University of California San Diego, La Jolla, CA 92093, USA.
Thiago M SanchesDepartment of Psychiatry, University of California San Diego, La Jolla, CA 92093, USA.
Riyan ChengDepartment of Psychiatry, University of California San Diego, La Jolla, CA 92093, USA.
Oksana PolesskayaDepartment of Psychiatry, University of California San Diego, La Jolla, CA 92093, USA.
Abraham A PalmerDepartment of Psychiatry, University of California San Diego, La Jolla, CA 92093, USA.ORCID 0000-0003-3634-0747

Funding

Sequencing CoreP50DA037844 · NIDA · UNIVERSITY OF CHICAGO · PI RICHARDS, JERRY B · 2014 to 2023
$27.4M
DP30DA060810 · NIDA · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI Abraham A Palmer · 2024 to 2026
$5.6M
NIDA NIH HHS P30 DA060810NIDA NIH HHS P50 DA037844NIDA NIH HHS P50DA037844
6 · The paper itself

Abstract

Affordable sequencing and genotyping methods are essential for large-scale genome-wide association studies. While genotyping microarrays and reference panels for imputation are available for human subjects, nonhuman model systems often lack such options. Our lab previously demonstrated an efficient and cost-effective method to genotype heterogeneous stock rats using double-digest genotyping by sequencing. However, low-coverage whole-genome sequencing offers an alternative method that has several advantages. Here, we describe a cost-effective, high-throughput, high-accuracy genotyping method for N/NIH heterogeneous stock rats that can use a combination of sequencing data previously generated by double-digest genotyping by sequencing and more recently generated by low-coverage whole-genome sequencing data. Using double-digest genotyping-by-sequencing data from 5,745 heterogeneous stock rats (mean 0.21× coverage) and low-coverage whole-genome sequencing data from 8,760 heterogeneous stock rats (mean 0.27× coverage), we can impute 7.32 million biallelic single-nucleotide polymorphisms with a concordance rate > 99.76% compared to high-coverage (mean 33.26× coverage) whole-genome sequencing data for a subset of the same individuals. Our results demonstrate the feasibility of using sequencing data from double-digest genotyping by sequencing or low-coverage whole-genome sequencing for accurate genotyping and demonstrate techniques that may also be useful for other genetic studies in nonhuman subjects.

Indexed as

Genotyping TechniquesHigh-Throughput Nucleotide SequencingAnimalsCost-Benefit AnalysisGenome-Wide Association StudyGenotypePolymorphism, Single NucleotideRatsWhole Genome Sequencinggenotypingheterogeneous stock ratlow-coveragewhole-genome sequencing

Identifiers

PMID39670731
PMCPMC11797033

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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.