J 2023

Genomic benchmarks: a collection of datasets for genomic sequence classification

GREŠOVÁ, Katarína, Vlastimil MARTINEK, David ČECHÁK, Petr ŠIMEČEK, Panagiotis ALEXIOU et. al.

Basic information

Original name

Genomic benchmarks: a collection of datasets for genomic sequence classification

Authors

GREŠOVÁ, Katarína (703 Slovakia, belonging to the institution), Vlastimil MARTINEK (203 Czech Republic, belonging to the institution), David ČECHÁK (203 Czech Republic, belonging to the institution), Petr ŠIMEČEK (203 Czech Republic, guarantor, belonging to the institution) and Panagiotis ALEXIOU (300 Greece, belonging to the institution)

Edition

BMC Genomic Data, 2730-6844, BMC, 2023, 2730-6844

Other information

Language

English

Type of outcome

Článek v odborném periodiku

Field of Study

10610 Biophysics

Country of publisher

United Kingdom of Great Britain and Northern Ireland

Confidentiality degree

není předmětem státního či obchodního tajemství

References:

Impact factor

Impact factor: 1.900 in 2022

RIV identification code

RIV/00216224:14740/23:00131330

Organization unit

Central European Institute of Technology

UT WoS

000981254200001

Keywords in English

Genomics; Dataset; Benchmark; Deep learning; Convolutional neural network

Tags

Tags

International impact, Reviewed
Změněno: 8/4/2024 10:34, Mgr. Eva Dubská

Abstract

V originále

Background Recently, deep neural networks have been successfully applied in many biological fields. In 2020, a deep learning model AlphaFold won the protein folding competition with predicted structures within the error tolerance of experimental methods. However, this solution to the most prominent bioinformatic challenge of the past 50 years has been possible only thanks to a carefully curated benchmark of experimentally predicted protein structures. In Genomics, we have similar challenges (annotation of genomes and identification of functional elements) but currently, we lack benchmarks similar to protein folding competition. Results Here we present a collection of curated and easily accessible sequence classification datasets in the field of genomics. The proposed collection is based on a combination of novel datasets constructed from the mining of publicly available databases and existing datasets obtained from published articles. The collection currently contains nine datasets that focus on regulatory elements (promoters, enhancers, open chromatin region) from three model organisms: human, mouse, and roundworm. A simple convolution neural network is also included in a repository and can be used as a baseline model. Benchmarks and the baseline model are distributed as the Python package ‘genomic-benchmarks’, and the code is available at https://github.com/ML-Bioinfo-CEITEC/genomic_benchmarks. Conclusions Deep learning techniques revolutionized many biological fields but mainly thanks to the carefully curated benchmarks. For the field of Genomics, we propose a collection of benchmark datasets for the classification of genomic sequences with an interface for the most commonly used deep learning libraries, implementation of the simple neural network and a training framework that can be used as a starting point for future research. The main aim of this effort is to create a repository for shared datasets that will make machine learning for genomics more comparable and reproducible while reducing the overhead of researchers who want to enter the field, leading to healthy competition and new discoveries.

Links

GF23-04260L, research and development project
Name: Biologický kód uzlů – identifikace uzlových vzorů v biomolekulách pomocí AI metod
Investor: Czech Science Foundation, Partner Agency (Poland)
LM2018140, research and development project
Name: e-Infrastruktura CZ (Acronym: e-INFRA CZ)
Investor: Ministry of Education, Youth and Sports of the CR
4431, interní kód MU
Name: Deep Learning for Genomic and Transcriptomic Pattern Identification
Investor: EMBO (European Molecular Biology Organization)
867414, interní kód MU
Name: Using Deep Learning to understand RNA Binding Protein binding characteristics (Acronym: DEEPLEARNRBP)
Investor: European Union, MSCA Marie Skłodowska-Curie Actions (Excellent Science)
896172, interní kód MU
Name: Deciphering the Language of DNA to Identify Regulatory Elements and Classify Transcripts Into Functional Classes (Acronym: LanguageOfDNA)
Investor: European Union, MSCA Marie Skłodowska-Curie Actions (Excellent Science)
90267, large research infrastructures
Name: NCMG III