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T1  - Computational framework for targeted high-coverage sequencing based NIPT 
SN  -  /  
UR  - http://hdl.handle.net/10138/306598 
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A1  - Teder, Hindrek; Paluoja, Priit; Rekker, Kadri; Salumets, Andres; Krjutškov, Kaarel; Palta, Priit 
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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 (... 
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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 
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