Abstract
The introduction of the Tandem Mass Spectrometry (MS/MS), in neonatal screening laboratories, has opened the doors to innovative newborn screening analysis. With this technology the number of metabolic disorders, that can be detected, from dried blood-spot species, increases significantly. However, the amount of information obtained with this technique and the pressure for quick and accurate diagnostics raises serious difficulties in the daily data analysis. To face this challenge we developed a software system, NeoScreen, which simplifies and allow speeding up newborn screening diagnostics.
Paper Domain:Health bioinformatics and genomics Statistical methods and tools for biological and medical data analysis
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Pinheiro, M., Oliveira, J.L., Santos, M.A.S., Rocha, H., Cardoso, M.L., Vilarinho, L. (2004). NeoScreen: A Software Application for MS/MS Newborn Screening Analysis. In: Barreiro, J.M., Martín-Sánchez, F., Maojo, V., Sanz, F. (eds) Biological and Medical Data Analysis. ISBMDA 2004. Lecture Notes in Computer Science, vol 3337. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-540-30547-7_45
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DOI: https://doi.org/10.1007/978-3-540-30547-7_45
Publisher Name: Springer, Berlin, Heidelberg
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