Automated NIPT diagnostics pipeline. The development of an automated Non Invasive Prenatal Test analysis pipeline using MOLGENIS compute framework
by H.A. de Weerd, F. van Dijk, E.N. de Boer, M. Dijkstra, B. Sikkema-Raddatz, G.J. te Meerman, M.A. Swertz, and L.F. JohanssonDepartment of Genetics, and Genomics Coordination Center, Department of Genetics, University Medical Center Groningen, the Netherlands
Dirk de Weerd's poster on NIPT has won a prize in the Hanze University's Institute of Life Science and Technology poster competition, which had some 100 submissions from students taking courses at HBO/undergraduate/Bachelor of Applied Science level, for example, in bioinformatics, chemistry, and biomedical laboratory studies.
Dirk de Weerd is a student of bioinformatics at the Hanze University of Applied Sciences. He was an intern in the Genomics Coordination Centre from January - September 2014. His internship project was to develop the Non-Invasive Prenatal Test (NIPT) pipeline in compute 5.
More about the GCC
PosterIntroduction. Detecting chromosomal aneuploidies is a major goal of prenatal screening tests. Prenatal testing methods are invasive and associated with miscarriage. Here a non-invasive screening test is presented: an automated non-invasive prenatal testing pipeline implemented in the Molgenis/Compute 5 framework. Up to 30% of cell free DNA in the maternal bloodstream (figure 1) originates from the fetus. If an expecting mother carries a fetus with a trisomy, a small increase of fragments mapping to the duplicated chromosome can be observed. In relation to a healthy control group a Z-score is calculated. Aligning and quality control is done with the inhouse method. Statistical analysis steps are tailored for NIPT. more
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