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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

Crossref DOI link: https://doi.org/10.1186/s40246-026-01011-z

Published Online: 2026-06-30

Update policy: https://doi.org/10.1007/springer_crossmark_policy

Authors

Fathi, Mohadeseh

Karimzadeh, Parvaneh

Ahmadabadi, Farzad

Ali, Damoun Nashta

Jafari, Narjes

Tangestani, Raheleh

Salehpour, Shadab

Moosavian, Toktam

Ghafouri-Fard, Soudeh

Miryounesi, Mohammad
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Text and Data Mining valid from 2026-06-30

Version of Record valid from 2026-09-18
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Article History

Received: 27 May 2026

Accepted: 24 June 2026

First Online: 30 June 2026

Declarations

Ethics approval and consent to participate: All procedures performed were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments. Informed consent forms were obtained from all patients or their legal representatives. The study obtained ethics approval from ethical committee of Shahid Beheshti University of Medical Sciences (IR.SBMU.MSP.REC.1403.346).

Consent for publication: Consent for publication was obtained from patients or their legal representatives.

Competing interests: The authors declare no competing interests.

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