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RU2018120702A - Method for bioinformatics analysis of genome-wide sequencing of free circulating DNA from a pregnant woman’s blood plasma to determine the risk of aneuploidy in the fetus - Google Patents

Method for bioinformatics analysis of genome-wide sequencing of free circulating DNA from a pregnant woman’s blood plasma to determine the risk of aneuploidy in the fetus Download PDF

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Publication number
RU2018120702A
RU2018120702A RU2018120702A RU2018120702A RU2018120702A RU 2018120702 A RU2018120702 A RU 2018120702A RU 2018120702 A RU2018120702 A RU 2018120702A RU 2018120702 A RU2018120702 A RU 2018120702A RU 2018120702 A RU2018120702 A RU 2018120702A
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RU
Russia
Prior art keywords
aneuploidy
risk
genome
fetus
blood plasma
Prior art date
Application number
RU2018120702A
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Russian (ru)
Inventor
Екатерина Сергеевна Шубина
Дмитрий Юрьевич Трофимов
Нана Картлосовна Тетруашвили
Original Assignee
Федеральное государственное бюджетное учреждение "Национальный медицинский исследовательский центр акушерства, гинекологии и перинатологии имени академика В.И. Кулакова" Министерства здравоохранения Российской Федерации
Общество с ограниченной ответственностью "ДНК-Технология ТС"
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Application filed by Федеральное государственное бюджетное учреждение "Национальный медицинский исследовательский центр акушерства, гинекологии и перинатологии имени академика В.И. Кулакова" Министерства здравоохранения Российской Федерации, Общество с ограниченной ответственностью "ДНК-Технология ТС" filed Critical Федеральное государственное бюджетное учреждение "Национальный медицинский исследовательский центр акушерства, гинекологии и перинатологии имени академика В.И. Кулакова" Министерства здравоохранения Российской Федерации
Priority to RU2018120702A priority Critical patent/RU2018120702A/en
Publication of RU2018120702A publication Critical patent/RU2018120702A/en

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Claims (1)

Способ биоинформатического анализа данных полнегеномного секвенирования свободноциркулирующей ДНК из плазмы крови беременной женщины для определения риска наличия анеуплоидий у плода, отличающийся тем, что из анализа исключают не уникальные фрагменты хромосом, с учетом используемой длины прочтений, копийные полиморфизмы, которые определяют по данным референсных образцов, принадлежащих к Российской популяции, определение риска наличия анеуплоидий проводят двумя способами по покрытию хромосомы целиком путем сравнения с покрытием референсных образцов и, с использованием разбиения генома на фрагменты путем сравнения покрытия хромосом внутри образца, при определении риска наличия анеуплоидий путем сравнения покрытия хромосом внутри образца используют предварительную нормировку на референсный набор образцов, определяют риск наличия анеуплоидий по всем 24 хромосомам.A method of bioinformatics analysis of the data of full genome sequencing of free circulating DNA from the blood plasma of a pregnant woman to determine the risk of aneuploidy in the fetus, characterized in that non-unique fragments of chromosomes are excluded from the analysis, taking into account the length of reads, copy polymorphisms, which are determined according to the reference samples belonging to to the Russian population, the determination of the risk of aneuploidy is carried out in two ways to cover the entire chromosome by comparing with the coating p ferensnyh samples and using partition genome into fragments by comparing the sample coverage of chromosomes in, when determining the risks of aneuploidy by chromosome comparison coating sample used in the preliminary normalization to the reference sample set, determine the risk of having aneuploidy in all chromosomes 24.
RU2018120702A 2018-06-05 2018-06-05 Method for bioinformatics analysis of genome-wide sequencing of free circulating DNA from a pregnant woman’s blood plasma to determine the risk of aneuploidy in the fetus RU2018120702A (en)

Priority Applications (1)

Application Number Priority Date Filing Date Title
RU2018120702A RU2018120702A (en) 2018-06-05 2018-06-05 Method for bioinformatics analysis of genome-wide sequencing of free circulating DNA from a pregnant woman’s blood plasma to determine the risk of aneuploidy in the fetus

Applications Claiming Priority (1)

Application Number Priority Date Filing Date Title
RU2018120702A RU2018120702A (en) 2018-06-05 2018-06-05 Method for bioinformatics analysis of genome-wide sequencing of free circulating DNA from a pregnant woman’s blood plasma to determine the risk of aneuploidy in the fetus

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RU2018120702A true RU2018120702A (en) 2019-12-05

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RU2018120702A RU2018120702A (en) 2018-06-05 2018-06-05 Method for bioinformatics analysis of genome-wide sequencing of free circulating DNA from a pregnant woman’s blood plasma to determine the risk of aneuploidy in the fetus

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