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van Beek, Daphne M (author), Straver, R. (author), Weiss, Marian M. (author), Boon, Elles M.J. (author), Huijsdens-van Amsterdam, Karin (author), Oudejans, Cees B.M. (author), Reinders, M.J.T. (author), Sistermans, Erik A. (author)Objective: To compare available analysis methods for determining fetal fraction on single read next generation sequencing data. This is important as the performance of non-invasive prenatal testing (NIPT) procedures depends on the fraction of fetal DNA. Methods: We tested six different methods for the detection of fetal fraction in NIPT...journal article 2017
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Straver, R. (author), Weiss, Marjan M. (author), Waisfisz, Quinten (author), Sistermans, Erik A. (author), Reinders, M.J.T. (author)In clinical genetics, detection of single nucleotide polymorphisms (SNVs) as well as copy number variations (CNVs) is essential for patient genotyping. Obtaining both CNV and SNV information from WES data would significantly simplify clinical workflow. Unfortunately, the sequence reads obtained with WES vary between samples, complicating...journal article 2017
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van Beek, Daphne M (author), Straver, R. (author), Weiss, Marian M. (author), Boon, Elles M.J. (author), Huijsdens-van Amsterdam, Karin (author), Oudejans, Cees B.M. (author), Reinders, M.J.T. (author), Sistermans, Erik A. (author)No abstract is available for this article.<br/>journal article 2017