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

Genes - 14 May 2021

Morshneva Alisa, Kozyulina Polina, Vashukova Elena, Tarasenko Olga, Dvoynova Natalia, Chentsova Anastasia, Talantova Olga, Koroteev Alexander, Ivanov Dmitrii, Serebryakova Elena, Ivashchenko Tatyana, Sukhomyasova Aitalina, Maksimova Nadezhda, Bespalova Olesya, Kogan Igor, Baranov Vladislav, Glotov Andrey

Abstract excerpt

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-based non-invasive prenatal testing (NIPT) contain fully sequenced mitochondrial DNA (mtDNA). This mtDNA can be used for...

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Identifiers

PMID: 34069212
DOI: 10.3390/genes12050743
PMCID: PMC8156457

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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