Data biases in genomics

Machine learning (ML) is developing into an inherent part of genomic research due to the ever-increasing amounts of genomic data. However, data-driven algorithms are strongly dependent on good quality and representative data, which can be problematic in genomics due to various reasons. One of these reasons is data biases-flawed or incomplete data often containing systematic errors that compromise its representativeness. In this review, we examine different categories of data biases in genomics and translate them into the framework of general ML. We give examples of different types of biases present in widely used databases such as NCBI ClinVar and gnomAD and illustrate how data biases can influence model performance in assorted studies.

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Journal
Trends in Genetics
Published
2026-04-01
DOI
https://doi.org/10.1016/j.tig.2026.02.007
Primary Topic
Genetic Associations and Epidemiology
Type
article
Field-Weighted Citation Impact
0.00

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article

Data biases in genomics

Lusiné Nazaretyan, Martin Kircher
Trends in Genetics
Genetic Associations and Epidemiology
article

Data biases in genomics

Lusiné Nazaretyan, Martin Kircher
article en

Abstract

Machine learning (ML) is developing into an inherent part of genomic research due to the ever-increasing amounts of genomic data. However, data-driven algorithms are strongly dependent on good quality and representative data, which can be problematic in genomics due to various reasons. One of these reasons is data biases-flawed or incomplete data often containing systematic errors that compromise its representativeness. In this review, we examine different categories of data biases in genomics and translate them into the framework of general ML. We give examples of different types of biases present in widely used databases such as NCBI ClinVar and gnomAD and illustrate how data biases can influence model performance in assorted studies.

Trends in Genetics
Berlin Institute of Health at Charité - Universitätsmedizin Berlin (DE), Charité - Universitätsmedizin Berlin (DE), University of Lübeck (DE)
Deutsche Forschungsgemeinschaft, Berlin Institute of Health, Helmholtz-Zentrum Berlin für Materialien und Energie
Openalex Percentile: Top 18%
Genetic Associations and Epidemiology
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Data biases in genomics — Lusiné Nazaretyan, Martin Kircher · Trends in Genetics (2026) | TGRS Research Map | TGRS