Genes, Vol. 12, Pages 743: Pilot Screening of Cell-Free mtDNA in NIPT: Quality Control, Variant Calling, and Haplogroup Determination

In this study, we analyse mtDNA pool from 645 cell-free DNA (cfDNA) samples of pregnant women from different regions of Russia, explore the effects of transportation and storing conditions on mtDNA content, analyse effects, frequency and location of mitochondrial variants called from samples and perform haplogroup analysis, revealing the most common mitochondrial superclades. We have shown that, despite the relatively low sequencing depth of unamplified mtDNA from cfDNA samples, the mtDNA analysis in these samples is still an informative instrument suitable for research and screening purposes.

Source: Genes - May 14, 2021 Category: Genetics & Stem Cells Authors: Alisa Morshneva Polina Kozyulina Elena Vashukova Olga Tarasenko Natalia Dvoynova Anastasia Chentsova Olga Talantova Alexander Koroteev Dmitrii Ivanov Elena Serebryakova Tatyana Ivashchenko Aitalina Sukhomyasova Nadezhda Maksimova Olesya Bespalova Igor Kog Tags: Article Source Type: research