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Prenatal diagnosis is possible in case of identification of known disease-causing variant(s) both on genomic DNA extracted from chorionic villus sample (CVS) cells and amniocytes.
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In cases of identification of ARSA (or persisting suspicion), we subsequently perform CT-angiography of the aorta to confirm an ARSA and to elucidate the involved anatomy.
In case of positive identification of a RPA the patient was directly transferred to the angiography suite.
In case of protein identifications with mascot score values between 50 and 60 or protein identifications based on one peptide, individual peptide MS/MS spectra were checked manually and either interpreted as valid identifications or discarded.
In the case of identification, the nearest neighbor classifier was applied, and the top-rank recognition rate was used to measure the performance of the methods.
Prenatal or preimplantation genetic diagnosis with the intention of terminating a pregnancy or not selecting embryos carrying the causative variant(s) is possible in the case of identification of known disease-causing variant(s).
In case of ambiguous species identification with the Vitek-2 system, DNA-based identification was then performed as described previously (Bosshard et al. 2006; Vandercam et al. 2008).
The system was developed following a simple approach: visual identification where images and/or short descriptions are used to uniquely identify diseases when possible and suggest refining the visual identification process in cases of ambiguous identification.
In case of six sequences, identification of additional positive pools under less stringent conditions resulted in identification of different clones/contigs after BAC address deconvolution.
In case of one-dimensional heterogeneity, identification is achieved under natural monotonicity assumptions.
From these multi-modal and bi-modal fusion results, we observed that accuracy of multi-modal is better than that of bi-modal in all cases of verification and in majority cases of identification.
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Justyna Jupowicz-Kozak
CEO of Professional Science Editing for Scientists @ prosciediting.com