Evidence map›Paper›PMID 38155188›Full record

ArticleScientific reports2023

A rapid and reference-free imputation method for low-cost genotyping platforms.

Vinh Chi Duong, Giang Minh Vu, Thien Khac Nguyen, Hung Tran The Nguyen, Thang Luong Pham, Nam S Vo, Tham Hong Hoang

Abstract read
In one paragraph

Article in Scientific reports, 2023. 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

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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. Review
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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

7 authors.

Vinh Chi Duong *Center for Biomedical Informatics, Vingroup Big Data Institute, Hanoi, Vietnam.
Giang Minh Vu *Center for Biomedical Informatics, Vingroup Big Data Institute, Hanoi, Vietnam.
Thien Khac NguyenGeneStory Joint Stock Company, Hanoi, Vietnam.
Hung Tran The NguyenCenter for Biomedical Informatics, Vingroup Big Data Institute, Hanoi, Vietnam.
Thang Luong PhamGeneStory Joint Stock Company, Hanoi, Vietnam.
Nam S VoCenter for Biomedical Informatics, Vingroup Big Data Institute, Hanoi, Vietnam. v.namvs@vinbigdata.org.
Tham Hong HoangCenter for Biomedical Informatics, Vingroup Big Data Institute, Hanoi, Vietnam. v.thamhh@vinbigdata.org.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Most current genotype imputation methods are reference-based, which posed several challenges to users, such as high computational costs and reference panel inaccessibility. Thus, deep learning models are expected to create reference-free imputation methods performing with higher accuracy and shortening the running time. We proposed a imputation method using recurrent neural networks integrating with an additional discriminator network, namely GRUD. This method was applied to datasets from genotyping chips and Low-Pass Whole Genome Sequencing (LP-WGS) with the reference panels from The 1000 Genomes Project (1KGP) phase 3, the dataset of 4810 Singaporeans (SG10K), and The 1000 Vietnamese Genome Project (VN1K). Our model performed more accurately than other existing methods on multiple datasets, especially with common variants with large minor allele frequency, and shrank running time and memory usage. In summary, these results indicated that GRUD can be implemented in genomic analyses to improve the accuracy and running-time of genotype imputation.

Indexed as

GenomePolymorphism, Single NucleotideGene FrequencyGenome-Wide Association StudyGenotypeGenotyping TechniquesHumansSoutheast Asian People

Identifiers

PMID38155188
PMCPMC10754833

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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.