КФУ. Карточка публикации. Lessons from the whole-exome sequencing effort in populations of Russia and Tajikistan

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

Форма представления

Статьи в зарубежных журналах и сборниках

Год публикации

2016

Язык

английский

Авторы, сотрудники КФУ

Григорьева Татьяна Владимировна, автор

Маланин Сергей Юрьевич, автор

Синягина Мария Николаевна, автор

Чернов Владислав Моисеевич, автор

Другие авторы

Балановская Елена Владимировна, автор

Балановский Олег Павлович, автор

Лукьянова Елена , автор

Библиографическое описание на языке оригинала

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

Аннотация

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.

Ключевые слова

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

Название журнала

BioNanoScience

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https://repository.kpfu.ru/?p_id=138875

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Полная запись метаданных

Поле DC	Значение	Язык
dc.contributor.author	Григорьева Татьяна Владимировна	ru_RU
dc.contributor.author	Маланин Сергей Юрьевич	ru_RU
dc.contributor.author	Синягина Мария Николаевна	ru_RU
dc.contributor.author	Чернов Владислав Моисеевич	ru_RU
dc.contributor.author	Балановская Елена Владимировна	ru_RU
dc.contributor.author	Балановский Олег Павлович	ru_RU
dc.contributor.author	Лукьянова Елена	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/?p_id=138875	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	Статьи в зарубежных журналах и сборниках	ru_RU