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In the read-counting approach to Non-invasive Prenatal Screening (NIPS) the aneuploidy status of a fetus/placenta is determined using the read representation of a chromosome and fetal fraction. Several in silico methods for fetal fraction determination are available and they estimate fetal fraction with different degree of precision and have different limitations. One of the most precise among them is the ffY method, which works for pregnancies with male placenta/fetus, only. The method requires sequencing a set of adult males.
A team of researchers at the Slovak university in Martin has developed a method – triFFY (trisomic fetal fraction) - for fetal fraction determination in pregnancies with male fetus which utilizes information from a small set of pregnancies with trisomic male placenta/fetus and the read representation of chromosome Y to predict fetal fraction for a sample from pregnancy with male placenta/fetus.
The institution is looking for an industrial partner for licensing, further development and commercionalization of the mentioned method.
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