Evidence map›Paper›PMID 34639231›Full record

ReviewInternational journal of molecular sciences2021

A Survey of Autoencoder Algorithms to Pave the Diagnosis of Rare Diseases.

David Pratella, Samira Ait-El-Mkadem Saadi, Sylvie Bannwarth, Véronique Paquis-Fluckinger, Silvia Bottini

Open access · goldAbstract readReview
In one paragraph

Review in International journal of molecular sciences, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.

0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed
1.9field-weighted citation impact, top 14% 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

7 citing papers in PubMed, 33 citations in OpenAlex.

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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

5 authors at 2 institutions in 1 country.

David PratellaCenter of Modeling, Simulation and Interactions, Université Côte d'Azur, 06200 Nice, France.
Samira Ait-El-Mkadem SaadiCentre Hospitalier Universitaire (CHU) de Nice, Institute for Research on Cancer and Aging, Nice (IRCAN), Université Côte d'Azur, Inserm U1081, CNRS UMR 7284, 06200 Nice, France.
Sylvie BannwarthCentre Hospitalier Universitaire (CHU) de Nice, Institute for Research on Cancer and Aging, Nice (IRCAN), Université Côte d'Azur, Inserm U1081, CNRS UMR 7284, 06200 Nice, France.
Véronique Paquis-FluckingerCentre Hospitalier Universitaire (CHU) de Nice, Institute for Research on Cancer and Aging, Nice (IRCAN), Université Côte d'Azur, Inserm U1081, CNRS UMR 7284, 06200 Nice, France.
Silvia BottiniCenter of Modeling, Simulation and Interactions, Université Côte d'Azur, 06200 Nice, France.ORCID 0000-0002-0605-4646
Centre National de la Recherche Scientifique · FRUniversité Côte d'Azur · FR

Funding

Agence Nationale de la Recherche ANR-15-IDEX-01
6 · The paper itself

Abstract

Rare diseases (RDs) concern a broad range of disorders and can result from various origins. For a long time, the scientific community was unaware of RDs. Impressive progress has already been made for certain RDs; however, due to the lack of sufficient knowledge, many patients are not diagnosed. Nowadays, the advances in high-throughput sequencing technologies such as whole genome sequencing, single-cell and others, have boosted the understanding of RDs. To extract biological meaning using the data generated by these methods, different analysis techniques have been proposed, including machine learning algorithms. These methods have recently proven to be valuable in the medical field. Among such approaches, unsupervised learning methods via neural networks including autoencoders (AEs) or variational autoencoders (VAEs) have shown promising performances with applications on various type of data and in different contexts, from cancer to healthy patient tissues. In this review, we discuss how AEs and VAEs have been used in biomedical settings. Specifically, we discuss their current applications and the improvements achieved in diagnostic and survival of patients. We focus on the applications in the field of RDs, and we discuss how the employment of AEs and VAEs would enhance RD understanding and diagnosis.

Indexed as

AlgorithmsMachine LearningNeural Networks, ComputerHigh-Throughput Nucleotide SequencingHumansPrognosisRare Diseasesartificial intelligenceautoencoderspersonalized medicinerare diseases

Identifiers

PMID34639231
PMCPMC8509321
OpenAlexW3202669580

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.