Article
Accurate fetal variant calling in the presence of maternal cell contamination.
European journal of human genetics : EJHG - 1 Nov 2020
Nabieva Elena, Sharma Satyarth Mishra, Kapushev Yermek, Garushyants Sofya K, Fedotova Anna V, Moskalenko Viktoria N, Serebrenikova Tatyana E, Glazyrina Eugene, Kanivets Ilya V, Pyankov Denis V, Neretina Tatyana V, Logacheva Maria D, Bazykin Georgii A, Yarotsky Dmitry
Abstract excerpt
High-throughput sequencing of fetal DNA is a promising and increasingly common method for the discovery of all (or all coding) genetic variants in the fetus, either as part of prenatal screening or diagnosis, or for genetic diagnosis of spontaneous abortions. In many cases, the fetal DNA (from chorionic villi, amniotic fluid, or abortive tissue) can be contaminated with maternal cells, resulting in the mixture of...
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