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

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

Open source

DOI
10.1186/s40246-026-01011-z
Published
2026-06-30
Container
Human Genomics
Publisher
Springer Science and Business Media LLC
Open access
unknown

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BibTeX

@article{allodium:10.1186/s40246-026-01011-z,
  title = {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},
  author = {Mohadeseh Fathi and Parvaneh Karimzadeh and Farzad Ahmadabadi and Damoun Nashta Ali and Narjes Jafari and Raheleh Tangestani and Shadab Salehpour and Toktam Moosavian and Soudeh Ghafouri-Fard and Mohammad Miryounesi},
  year = {2026},
  journal = {Human Genomics},
  doi = {10.1186/s40246-026-01011-z},
  url = {https://doi.org/10.1186/s40246-026-01011-z}
}

RIS

TY  - JOUR
TI  - 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
AU  - Mohadeseh Fathi
AU  - Parvaneh Karimzadeh
AU  - Farzad Ahmadabadi
AU  - Damoun Nashta Ali
AU  - Narjes Jafari
AU  - Raheleh Tangestani
AU  - Shadab Salehpour
AU  - Toktam Moosavian
AU  - Soudeh Ghafouri-Fard
AU  - Mohammad Miryounesi
PY  - 2026
JO  - Human Genomics
DO  - 10.1186/s40246-026-01011-z
UR  - https://doi.org/10.1186/s40246-026-01011-z
ER  - 

APA

Fathi, M., Karimzadeh, P., Ahmadabadi, F., Ali, D. N., Jafari, N., Tangestani, R., Salehpour, S., Moosavian, T., Ghafouri-Fard, S., & Miryounesi, M. (2026). 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. https://doi.org/10.1186/s40246-026-01011-z

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