7 research outputs found

    Preface : in silico pipeline for accurate cell-free fetal DNA fraction prediction

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    Objective During routine noninvasive prenatal testing (NIPT), cell-free fetal DNA fraction is ideally derived from shallow-depth whole-genome sequencing data, preventing the need for additional experimental assays. The fraction of aligned reads to chromosome Y enables proper quantification for male fetuses, unlike for females, where advanced predictive procedures are required. This study introduces PREdict FetAl ComponEnt (PREFACE), a novel bioinformatics pipeline to establish fetal fraction in a gender-independent manner. Methods PREFACE combines the strengths of principal component analysis and neural networks to model copy number profiles. Results For sets of roughly 1100 male NIPT samples, a cross-validated Pearson correlation of 0.9 between predictions and fetal fractions according to Y chromosomal read counts was noted. PREFACE enables training with both male and unlabeled female fetuses. Using our complete cohort (n(female) = 2468, n(male) = 2723), the correlation metric reached 0.94. Conclusions Allowing individual institutions to generate optimized models sidelines between-laboratory bias, as PREFACE enables user-friendly training with a limited amount of retrospective data. In addition, our software provides the fetal fraction based on the copy number state of chromosome X. We show that these measures can predict mixed multiple pregnancies, sex chromosomal aneuploidies, and the source of observed aberrations

    Community Reference Laboratory for Feed Additives Authorisation: Annual Report 2006

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    The objective of this report is to present the activities of the Community Reference Laboratory for Feed Additives Authorisation in 2006 (CRL-FAA). The report shows that besides the evaluation of dossiers, the CRL-FAA carried out many other tasks. Important additional matters were the successful accreditation of the laboratory according to ISO 17025, the support of the European Commission regarding the drafting of the new guidelines for the applicants, further improvement of informatics tools and the organisation of two workshops to discuss these topics with the National Reference Laboratory.JRC.D.8-Food safety and qualit

    Community Reference Laboratory For Feed Additives Annual Report Authorisation Activities 2007

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    In 2007 the CRL-FA - along with the National Reference Laboratories (NRLs) - evaluated analytical methods related to 28 dossiers. The evaluation covered analytical methodologies on a wide variety, such as microbiological enumeration techniques for the determination of probiotics, liquid chromatography for coccidiostats and atomic absorption spectroscopy for trace elements.JRC.D.8-Food safety and qualit
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