MOTIVATION: During the Bavarian newborn screening programme all newborns have been tested for about 20 inherited metabolic disorders. Owing to the amount and complexity of the generated experimental data, machine learning techniques provide a promising approach to investigate novel patterns in high-dimensional metabolic data which form the source for constructing classification rules with high discriminatory power. RESULTS: Six machine learning techniques have been investigated for their classification accuracy focusing on two metabolic disorders, phenylketo nuria (PKU) and medium-chain acyl-CoA dehydrogenase deficiency (MCADD). Logistic regression analysis led to superior classification rules (sensitivity >96.8%, specificity >99.98%) compared to all investigated algorithms. Including novel constellations of metabolites into the models, the positive predictive value could be strongly increased (PKU 71.9% versus 16.2%, MCADD 88.4% versus 54.6% compared to the established diagnostic markers). Our results clearly prove that the mined data confirm the known and indicate some novel metabolic patterns which may contribute to a better understanding of newborn metabolism.
RCT Entities:
MOTIVATION: During the Bavarian newborn screening programme all newborns have been tested for about 20 inherited metabolic disorders. Owing to the amount and complexity of the generated experimental data, machine learning techniques provide a promising approach to investigate novel patterns in high-dimensional metabolic data which form the source for constructing classification rules with high discriminatory power. RESULTS: Six machine learning techniques have been investigated for their classification accuracy focusing on two metabolic disorders, phenylketo nuria (PKU) and medium-chain acyl-CoA dehydrogenase deficiency (MCADD). Logistic regression analysis led to superior classification rules (sensitivity >96.8%, specificity >99.98%) compared to all investigated algorithms. Including novel constellations of metabolites into the models, the positive predictive value could be strongly increased (PKU 71.9% versus 16.2%, MCADD 88.4% versus 54.6% compared to the established diagnostic markers). Our results clearly prove that the mined data confirm the known and indicate some novel metabolic patterns which may contribute to a better understanding of newborn metabolism.
Authors: Karl G Sylvester; Shiying Hao; Jin You; Le Zheng; Lu Tian; Xiaoming Yao; Lihong Mo; Subhashini Ladella; Ronald J Wong; Gary M Shaw; David K Stevenson; Harvey J Cohen; John C Whitin; Doff B McElhinney; Xuefeng B Ling Journal: BMJ Open Date: 2020-12-02 Impact factor: 2.692
Authors: Robert Modre-Osprian; Ingrid Osprian; Bernhard Tilg; Günter Schreier; Klaus M Weinberger; Armin Graber Journal: BMC Syst Biol Date: 2009-01-06
Authors: Oleg A Shchelochkov; Irini Manoli; Paul Juneau; Jennifer L Sloan; Susan Ferry; Jennifer Myles; Megan Schoenfeld; Alexandra Pass; Samantha McCoy; Carol Van Ryzin; Olivia Wenger; Mark Levin; Wadih Zein; Laryssa Huryn; Joseph Snow; Colby Chlebowski; Audrey Thurm; Jeffrey B Kopp; Kong Y Chen; Charles P Venditti Journal: Genet Med Date: 2021-05-18 Impact factor: 8.822