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Editorial
. 2022 Nov 12:10:1032359.
doi: 10.3389/fped.2022.1032359. eCollection 2022.

Editorial: NGS technologies of rare diseases diagnosis

María L Couce  1 , Emiliano González-Vioque  2
Affiliations
Editorial

Editorial: NGS technologies of rare diseases diagnosis

María L Couce et al. Front Pediatr. .
No abstract available

Keywords: DNA SEQUENCING; exome sequencing; genome sequencing; transcriptome; variants.

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Conflict of interest statement

The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.

References

    1. Amberger JS, Bocchini CA, Schiettecatte F, Scott AF, Hamosh A. OMIM.Org: online Mendelian inheritance in man (OMIM(R)), an online catalog of human genes and genetic disorders. Nucleic Acids Res. (2015) 43(Database issue):D789–98. 10.1093/nar/gku1205 - DOI - PMC - PubMed
    1. Wright CF, FitzPatrick DR, Firth HV. Paediatric genomics: diagnosing rare disease in children. Nat Rev Genet. (2018) 19:325. 10.1038/nrg.2017.116 - DOI - PubMed
    1. de Castro MJ, González-Vioque E, Barbosa-Gouveia S, Salguero E, Rite S, López-Suárez O, et al. Rapid phenotype-driven gene sequencing with the NeoSeq panel: a diagnostic tool for critically ill newborns with suspected genetic disease. J Clin Med. (2020) 9:2362. 10.1038/gim.2016.1 - DOI - PMC - PubMed
    1. Stark Z, Tan TY, Chong B, Brett GR, Yap P, Walsh M, et al. A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. Genet Med. (2016) 18:1090–6. 10.1038/gim.2016.1 - DOI - PubMed
    1. Australian Genomics Health Alliance Acute Care Flagship, Lunke S, Eggers S, Wilson M, Patel C, Barnett CP, Pinner J, et al. , Feasibility of ultra-rapid exome sequencing in critically ill infants and children with suspected monogenic conditions in the Australian public health care system. JAMA. (2020) 323:2503–11. 10.1001/jama.2020.7671 - DOI - PMC - PubMed

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