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Development a new method for noninvasive prenatal detection of fetal aneuploidyдоклад на конференции
- Авторы: Пантюх К.С., Моспан Н., Храмеева Е.Е., Шанько А.В.
- Международная Конференция : ISPD International Conference on Prenatal Diagnosis and Therapy
- Даты проведения конференции: 2013
- Тип доклада: не указан
- Докладчик: не указан
- Место проведения: Португалия, Лиссабон, Португалия
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Аннотация доклада:
Recent studies have demonstrated significant accuracy of noninvasive aneuploidy detection using shotgun NGS platform. However, this method remains unsatisfactory for clinical application given that whole-genome sequencing is expensive and time-consuming. Our research is aimed to development fast and cheap method for trisomy detection. We propose two different approaches for this optimization. The first one uses differentially methylated regions (DMRs) in maternal and fetal genomes (methylation method) and the second approach involves target sequencing of loci harboring SNPs with no less than 45% minor allele frequency (MAF)(SNP method).
- Добавил в систему: Пантюх Катерина Сергеевна