Analysis of whole-exome sequencing data from nearly 10,000 Iranian individuals: identification of recessive mitochondrial disease variants and proposal of a population-specific carrier screening panel.

doi:10.1186/s40246-026-01011-z

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Analysis of whole-exome sequencing data from nearly 10,000 Iranian individuals: identification of recessive mitochondrial disease variants and proposal of a population-specific carrier screening panel.

Human genomics - 30 Jun 2026

Fathi Mohadeseh, Karimzadeh Parvaneh, Ahmadabadi Farzad, Ali Damoun Nashta, Jafari Narjes, Tangestani Raheleh, Salehpour Shadab, Moosavian Toktam, Ghafouri-Fard Soudeh, Miryounesi Mohammad

Abstract excerpt

BACKGROUND: Mitochondrial diseases, often stemming from recessive nuclear gene mutations, represent a heterogeneous group of disorders with significant morbidity and mortality. Carrier screening for these conditions is population-specific, yet data on the pathogenic variant burden in the Iranian population remain limited. This study aimed to analyze whole-exome sequencing (WES) data from 9989 Iranian individuals...

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Topics

Humans
Exome Sequencing
Mitochondrial Diseases
Iran
Genes, Recessive

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Female

Genetic Carrier Screening

Mutation

Heterozygote

Male

Gene Frequency

Mitochondria

Source

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Identifiers

PMID: 42380964
DOI: 10.1186/s40246-026-01011-z
PMCID: PMC13587502

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