Evidence map›Paper›PMID 38225263›Full record

ReviewJournal of human genetics2024

Genotype imputation methods for whole and complex genomic regions utilizing deep learning technology.

Tatsuhiko Naito, Yukinori Okada

Abstract readReview
In one paragraph

Review in Journal of human genetics, 2024. 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. Review
  5. Review
  6. Article
  7. Review
  8. Article
  9. Article
  10. 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

2 authors.

Tatsuhiko NaitoDepartment of Statistical Genetics, Osaka University Graduate School of Medicine, 2-2, Yamadaoka, Suita-shi, Osaka, 565-0871, Japan. tnaito@sg.med.osaka-u.ac.jp.ORCID http://orcid.org/0000-0002-2779-4600
Yukinori OkadaDepartment of Statistical Genetics, Osaka University Graduate School of Medicine, 2-2, Yamadaoka, Suita-shi, Osaka, 565-0871, Japan.ORCID http://orcid.org/0000-0002-0311-8472

Funding

MEXT | Japan Society for the Promotion of Science (JSPS) 22H00476
6 · The paper itself

Abstract

The imputation of unmeasured genotypes is essential in human genetic research, particularly in enhancing the power of genome-wide association studies and conducting subsequent fine-mapping. Recently, several deep learning-based genotype imputation methods for genome-wide variants with the capability of learning complex linkage disequilibrium patterns have been developed. Additionally, deep learning-based imputation has been applied to a distinct genomic region known as the major histocompatibility complex, referred to as HLA imputation. Despite their various advantages, the current deep learning-based genotype imputation methods do have certain limitations and have not yet become standard. These limitations include the modest accuracy improvement over statistical and conventional machine learning-based methods. However, their benefits include other aspects, such as their "reference-free" nature, which ensures complete privacy protection, and their higher computational efficiency. Furthermore, the continuing evolution of deep learning technologies is expected to contribute to further improvements in prediction accuracy and usability in the future.

Indexed as

Deep LearningGenome-Wide Association StudyGenotypeLinkage DisequilibriumGenome, HumanGenomicsHumansPolymorphism, Single Nucleotide

Identifiers

PMID38225263
PMCPMC11422162

What Socratic holds

Textmetadata
LicenceCC BY
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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.