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Open Access

Peer-reviewed

Research Article

Genetic yield of next-generation sequencing for detecting monogenic familial hypercholesterolemia in uzbek patients with coronary artery disease

Rano B. Alieva ,

Contributed equally to this work with: Rano B. Alieva, Anastasiya V. Bahachova, Khurshid G. Fozilov, Guzal J. Abdullaeva, Alisher A. Abdullaev, Lilya E. Kan, Shavkat U. Khoshimov, Andrey R. Kim, Ulugbek I. Nizamov, Dilnora B. Yusupalieva

Roles Conceptualization, Writing – original draft

Affiliation Republican Specialized Scientific and Practical Medical Center for Cardiology, Ministry of Health of the Republic Uzbekistan, Tashkent, Uzbekistan
⨯
Aleksandr B. Shek ,

Roles Conceptualization, Data curation, Writing – original draft, Writing – review & editing

* E-mail: shek-999@mail.ru

Affiliation Republican Specialized Scientific and Practical Medical Center for Cardiology, Ministry of Health of the Republic Uzbekistan, Tashkent, Uzbekistan

https://orcid.org/0000-0003-2354-1785

⨯
Anastasiya V. Bahachova ,

Contributed equally to this work with: Rano B. Alieva, Anastasiya V. Bahachova, Khurshid G. Fozilov, Guzal J. Abdullaeva, Alisher A. Abdullaev, Lilya E. Kan, Shavkat U. Khoshimov, Andrey R. Kim, Ulugbek I. Nizamov, Dilnora B. Yusupalieva

Roles Methodology, Validation, Writing – original draft

Affiliation Independent Consultant, Tbilisi, Georgia
⨯
Khurshid G. Fozilov ,

Contributed equally to this work with: Rano B. Alieva, Anastasiya V. Bahachova, Khurshid G. Fozilov, Guzal J. Abdullaeva, Alisher A. Abdullaev, Lilya E. Kan, Shavkat U. Khoshimov, Andrey R. Kim, Ulugbek I. Nizamov, Dilnora B. Yusupalieva

Roles Data curation, Supervision

Affiliation Republican Specialized Scientific and Practical Medical Center for Cardiology, Ministry of Health of the Republic Uzbekistan, Tashkent, Uzbekistan
⨯
Guzal J. Abdullaeva ,

Contributed equally to this work with: Rano B. Alieva, Anastasiya V. Bahachova, Khurshid G. Fozilov, Guzal J. Abdullaeva, Alisher A. Abdullaev, Lilya E. Kan, Shavkat U. Khoshimov, Andrey R. Kim, Ulugbek I. Nizamov, Dilnora B. Yusupalieva

Roles Investigation, Methodology

Affiliation Republican Specialized Scientific and Practical Medical Center for Cardiology, Ministry of Health of the Republic Uzbekistan, Tashkent, Uzbekistan
⨯
Alisher A. Abdullaev ,

Contributed equally to this work with: Rano B. Alieva, Anastasiya V. Bahachova, Khurshid G. Fozilov, Guzal J. Abdullaeva, Alisher A. Abdullaev, Lilya E. Kan, Shavkat U. Khoshimov, Andrey R. Kim, Ulugbek I. Nizamov, Dilnora B. Yusupalieva

Roles Data curation, Formal analysis, Methodology, Validation

Affiliation Center for Advanced Technologies, Ministry of Higher Education, Science and Innovation of the Republic Uzbekistan, Tashkent, Uzbekistan
⨯
Lilya E. Kan ,

Contributed equally to this work with: Rano B. Alieva, Anastasiya V. Bahachova, Khurshid G. Fozilov, Guzal J. Abdullaeva, Alisher A. Abdullaev, Lilya E. Kan, Shavkat U. Khoshimov, Andrey R. Kim, Ulugbek I. Nizamov, Dilnora B. Yusupalieva

Roles Data curation, Investigation

Affiliation Republican Specialized Scientific and Practical Medical Center for Cardiology, Ministry of Health of the Republic Uzbekistan, Tashkent, Uzbekistan
⨯
Shavkat U. Khoshimov ,

Contributed equally to this work with: Rano B. Alieva, Anastasiya V. Bahachova, Khurshid G. Fozilov, Guzal J. Abdullaeva, Alisher A. Abdullaev, Lilya E. Kan, Shavkat U. Khoshimov, Andrey R. Kim, Ulugbek I. Nizamov, Dilnora B. Yusupalieva

Roles Data curation, Formal analysis, Software

Affiliation Republican Specialized Scientific and Practical Medical Center for Cardiology, Ministry of Health of the Republic Uzbekistan, Tashkent, Uzbekistan
⨯
Andrey R. Kim ,

Contributed equally to this work with: Rano B. Alieva, Anastasiya V. Bahachova, Khurshid G. Fozilov, Guzal J. Abdullaeva, Alisher A. Abdullaev, Lilya E. Kan, Shavkat U. Khoshimov, Andrey R. Kim, Ulugbek I. Nizamov, Dilnora B. Yusupalieva

Roles Investigation, Resources, Software

Affiliation Republican Specialized Scientific and Practical Medical Center for Cardiology, Ministry of Health of the Republic Uzbekistan, Tashkent, Uzbekistan
⨯
Ulugbek I. Nizamov ,

Contributed equally to this work with: Rano B. Alieva, Anastasiya V. Bahachova, Khurshid G. Fozilov, Guzal J. Abdullaeva, Alisher A. Abdullaev, Lilya E. Kan, Shavkat U. Khoshimov, Andrey R. Kim, Ulugbek I. Nizamov, Dilnora B. Yusupalieva

Roles Project administration, Validation

Affiliation Republican Specialized Scientific and Practical Medical Center for Cardiology, Ministry of Health of the Republic Uzbekistan, Tashkent, Uzbekistan
⨯
Dilnora B. Yusupalieva

Contributed equally to this work with: Rano B. Alieva, Anastasiya V. Bahachova, Khurshid G. Fozilov, Guzal J. Abdullaeva, Alisher A. Abdullaev, Lilya E. Kan, Shavkat U. Khoshimov, Andrey R. Kim, Ulugbek I. Nizamov, Dilnora B. Yusupalieva

Roles Investigation

Affiliation Republican Specialized Scientific and Practical Medical Center for Cardiology, Ministry of Health of the Republic Uzbekistan, Tashkent, Uzbekistan
⨯

Genetic yield of next-generation sequencing for detecting monogenic familial hypercholesterolemia in uzbek patients with coronary artery disease

Rano B. Alieva,
Aleksandr B. Shek,
Anastasiya V. Bahachova,
Khurshid G. Fozilov,
Guzal J. Abdullaeva,
Alisher A. Abdullaev,
Lilya E. Kan,
Shavkat U. Khoshimov,
Andrey R. Kim,
Ulugbek I. Nizamov

x

Published: July 9, 2026
https://doi.org/10.1371/journal.pone.0353401

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Familial hypercholesterolemia
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Coronary heart disease
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Diagnostic medicine
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Human genetics
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Genetic testing
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Next-generation sequencing
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Hypercholesterolemia
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Uzbekistan
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