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. 2018 Nov 7;29(3):227-229.
eCollection 2018 Nov.

NGS for Metabolic Disease Diagnosis

Affiliations

NGS for Metabolic Disease Diagnosis

Dèlia Yubero et al. EJIFCC. .
No abstract available

Keywords: inborn errors of metabolism; next generation sequencing.

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References

    1. Wong LJ. Challenges of bringing next generation sequencing technologies to clinical molecular diagnostic laboratories. Neurotherapeutics 2013;10:262-272 - PMC - PubMed
    1. DaRe JT, Vasta V, Penn J, et al. Targeted exome sequencing for mitochondrial disorders reveals high genetic heterogeneity. BMC Med Genet 2013;14:118. - PMC - PubMed
    1. Ghosh A, Schlecht H, Heptinstall LE, et al. Diagnosing childhood-onset inborn errors of metabolism by next-generation sequencing. Arch Dis Child 2017;102(11):1019-1029 - PubMed
    1. LaDuca H, Farwell KD, Vuong H, et al. Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels. PLoS One 2017;12(2):e0170843. - PMC - PubMed
    1. Sawyer SL, Hartley T, Dyment DA, et al. Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care. Clin Genet 2016;89(3):275-284 - PMC - PubMed

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