KFU. Card publication. Lessons from the whole-exome sequencing effort in populations of Russia and Tajikistan

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FEDERAL UNIVERSITY

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LESSONS FROM THE WHOLE-EXOME SEQUENCING EFFORT IN POPULATIONS OF RUSSIA AND TAJIKISTAN

Form of presentation

Articles in international journals and collections

Year of publication

2016

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Authors, employees of KFU

Grigoreva Tatyana Vladimirovna, author

Malanin Sergey Yurevich, author

Sinyagina Mariya Nikolaevna, author

Chernov Vladislav Moiseevich, author

Other authors

Balanovskaya Elena Vladimirovna, author

Balanovskiy Oleg Pavlovich, author

Lukyanova Elena , author

Bibliographic description in the original language

Eugenia A. Boulygina. Lessons from the whole-exome sequencing effort in populations of Russia and Tajikistan / Eugenia A. Boulygina, Elena Lukianova, Tatyana V. Grigoryeva, Maria N. Siniagina, Sergey Yu. Malanin, Elena V. Balanovska, Oleg P. Balanovsky, Vladislav M. Chernov // BioNanoScience. - 2016. - Vol.6,Is.4. - P. 540-542

Annotation

In contrast with the traditional methods applied to assessment of population diversity, high-throughput sequencing technologies have a wider application in clinical practice with greater potential to find novel disease-causing variants for multifactorial disorders. Widely-used test panels may not meet their goal to diagnose the patient's condition with a full reliability since this method often does not take into account the population frequencies of analyzed genetic markers. Here, we analyzed 57 male individuals of 5 ethnic groups from Russia and Tajikistan using the whole-exome sequencing technique (Ion AmpliSeq Exome), which resulted in detecting more than 299000 single nucleotide polymorphisms. Samples formed clusters on the PCA plot according to the geographical location of the corresponding populations.

Keywords

Whole exome sequencing, Diagnostic panel, Ion AmpliSeq Exome, SNP, North Eurasian populations

The name of the journal

BioNanoScience

Please use this ID to quote from or refer to the card

https://repository.kpfu.ru/eng/?p_id=138875&p_lang=2

Resource files

File name	Size (MB)	Format
actual_paper.pdf	0,49	pdf	show / download

Full metadata record

Field DC	Value	Language
dc.contributor.author	Grigoreva Tatyana Vladimirovna	ru_RU
dc.contributor.author	Malanin Sergey Yurevich	ru_RU
dc.contributor.author	Sinyagina Mariya Nikolaevna	ru_RU
dc.contributor.author	Chernov Vladislav Moiseevich	ru_RU
dc.contributor.author	Balanovskaya Elena Vladimirovna	ru_RU
dc.contributor.author	Balanovskiy Oleg Pavlovich	ru_RU
dc.contributor.author	Lukyanova Elena	ru_RU
dc.date.accessioned	2016-01-01T00:00:00Z	ru_RU
dc.date.available	2016-01-01T00:00:00Z	ru_RU
dc.date.issued	2016	ru_RU
dc.identifier.citation	Eugenia A. Boulygina. Lessons from the whole-exome sequencing effort in populations of Russia and Tajikistan / Eugenia A. Boulygina, Elena Lukianova, Tatyana V. Grigoryeva, Maria N. Siniagina, Sergey Yu. Malanin, Elena V. Balanovska, Oleg P. Balanovsky, Vladislav M. Chernov // BioNanoScience. - 2016. - Vol.6,Is.4. - P. 540-542	ru_RU
dc.identifier.uri	https://repository.kpfu.ru/eng/?p_id=138875&p_lang=2	ru_RU
dc.description.abstract	BioNanoScience	ru_RU
dc.description.abstract	In contrast with the traditional methods applied to assessment of population diversity, high-throughput sequencing technologies have a wider application in clinical practice with greater potential to find novel disease-causing variants for multifactorial disorders. Widely-used test panels may not meet their goal to diagnose the patient's condition with a full reliability since this method often does not take into account the population frequencies of analyzed genetic markers. Here, we analyzed 57 male individuals of 5 ethnic groups from Russia and Tajikistan using the whole-exome sequencing technique (Ion AmpliSeq Exome), which resulted in detecting more than 299000 single nucleotide polymorphisms. Samples formed clusters on the PCA plot according to the geographical location of the corresponding populations.	ru_RU
dc.language.iso	ru	ru_RU
dc.subject	Whole exome sequencing	ru_RU
dc.subject	Diagnostic panel	ru_RU
dc.subject	Ion AmpliSeq Exome	ru_RU
dc.subject	SNP	ru_RU
dc.subject	North Eurasian populations	ru_RU
dc.title	Lessons from the whole-exome sequencing effort in populations of Russia and Tajikistan	ru_RU
dc.type	Articles in international journals and collections	ru_RU