Pilot Screening of Cell-Free mtDNA in NIPT: Quality Control, Variant Calling, and Haplogroup Determination

Pilot Screening of Cell-Free mtDNA in NIPT: Quality Control, Variant Calling, and Haplogroup Determination

Clinical tests based on whole-genome sequencing are generally focused on a single task approach, testing one or several parameters, although whole-genome sequencing (WGS) provides us with large data sets that can be used for many supportive analyses. In spite of low genome coverage, data of WGS-base...

Full description

Bibliographic Details
Main 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 Kogan, Vladislav Baranov, Andrey Glotov
Format: Article
Language:English
Published: MDPI AG 2021-05-01
Series:Genes
Subjects:
NIPT
foetal fraction
transportation
cfDNA
mtDNA
mitochondrial diseases
Online Access:https://www.mdpi.com/2073-4425/12/5/743

Internet

https://www.mdpi.com/2073-4425/12/5/743

Similar Items