TY - T1 - Computational framework for targeted high-coverage sequencing based NIPT SN - / UR - http://hdl.handle.net/10138/306598 T3 - A1 - Teder, Hindrek; Paluoja, Priit; Rekker, Kadri; Salumets, Andres; Krjutškov, Kaarel; Palta, Priit A2 - PB - Y1 - 2019 LA - eng AB - Non-invasive prenatal testing (NIPT) enables accurate detection of fetal chromosomal trisomies. The majority of publicly available computational methods for sequencing-based NIPT analyses rely on low-coverage whole-genome sequencing (WGS) data and are not applicable for targeted high-coverage sequencing data from cell-free DNA samples. Here, we present a novel computational framework for a targeted high-coverage sequencing-based NIPT analysis. The developed framework uses a hidden Markov model (... VO - IS - SP - OP - KW - 1182 Biochemistry, cell and molecular biology; 113 Computer and information sciences; CELL-FREE DNA; DOWN-SYNDROME; MEIOTIC STAGE; MATERNAL AGE; ANEUPLOIDY; PLASMA; NONDISJUNCTION; TRISOMY-21; FRACTION; GENESIS N1 - PP - ER -