Evidence map›Paper›PMID 34479616›Full record

ArticleBioData mining2021

Evaluation of different approaches for missing data imputation on features associated to genomic data.

Ben Omega Petrazzini, Hugo Naya, Fernando Lopez-Bello, Gustavo Vazquez, Lucía Spangenberg

Open access · goldAbstract read
In one paragraph

Article in BioData mining, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.

0numbers the graph read from it
0cells of the map it votes in
19citing papers in PubMed
7.1field-weighted citation impact, top 3% of its field
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

19 citing papers in PubMed, 50 citations in OpenAlex.

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  18. AI applications in functional genomics.Computational and structural biotechnology journal · 2021
    Review
  19. Machine Learning to Dynamically Predict In-Hospital Venous Thromboembolism After Inguinal Hernia Surgery: Results From the CHAT-1 Study.Clinical and applied thrombosis/hemostasis : official journal of the International Academy of Clinical and Applied Thrombosis/Hemostasis
    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

5 authors at 3 institutions in 2 countries.

Ben Omega PetrazziniBioinformatics Unit, Institut Pasteur de Montevideo, Mataojo 2020, 11400, Montevideo, Uruguay.
Hugo NayaBioinformatics Unit, Institut Pasteur de Montevideo, Mataojo 2020, 11400, Montevideo, Uruguay.
Fernando Lopez-BelloPEDECIBA Bioinformática, Universidad de la República, Montevideo, Uruguay.
Gustavo VazquezDepartment of Informatics and Computer Science, Universidad Católica del Uruguay, Av. 8 de Octubre, 2738, 11600, Montevideo, Uruguay.
Lucía SpangenbergBioinformatics Unit, Institut Pasteur de Montevideo, Mataojo 2020, 11400, Montevideo, Uruguay. lucia@pasteur.edu.uy.
Institut Pasteur de Montevideo · UYUniversidad Católica del Uruguay · UYUniversidad de la República · UY

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundMissing data is a common issue in different fields, such as electronics, image processing, medical records and genomics. They can limit or even bias the posterior analysis. The data collection process can lead to different distribution, frequency, and structure of missing data points. They can be classified into four categories: Structurally Missing Data (SMD), Missing Completely At Random (MCAR), Missing At Random (MAR) and Missing Not At Random (MNAR). For the three later, and in the context of genomic data (especially non-coding data), we will discuss six imputation approaches using 31,245 variants collected from ClinVar and annotated with 13 genome-wide features.

resultsRandom Forest and kNN algorithms showed the best performance in the evaluated dataset. Additionally, some features show robust imputation regardless of the algorithm (e.g. conservation scores phyloP7 and phyloP20), while other features show poor imputation across algorithms (e.g. PhasCons). We also developed an R package that helps to test which imputation method is the best for a particular data set.

conclusionsWe found that Random Forest and kNN are the best imputation method for genomics data, including non-coding variants. Since Random Forest is computationally more challenging, kNN remains a more realistic approach. Future work on variant prioritization thru genomic screening tests could largely profit from this methodology.

Indexed as

genomicsimputationMachine learningmissing datapathogenic variants

Identifiers

PMID34479616
PMCPMC8414708
OpenAlexW3197003309

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

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 OpenQuestion graph.