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European guidelines for constitutional cytogenomic analysis

2018-10-01Journal article Open access
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dc.contributor.authorSilva, Marisa
dc.contributor.authorde Leeuw, Nicole
dc.contributor.authorMann, Kathy
dc.contributor.authorSchuring-Blom, Heleen
dc.contributor.authorMorgan, Sian
dc.contributor.authorGiardino, Daniela
dc.contributor.authorRack, Katrina
dc.contributor.authorHastings, Ros
dc.date.accessioned2018-11-23T15:09:14Z
dc.date.available2018-11-23T15:09:14Z
dc.date.issued2018-10-01
dc.descriptionFree PMC Article: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6303289/
dc.description.abstractWith advancing technology and the consequent shift towards an increasing application of molecular genetic techniques (e.g., microarrays, next-generation sequencing) with the potential for higher resolution in specific contexts, as well as the application of combined testing strategies for the diagnosis of chromosomal disorders, it is crucial that cytogenetic/cytogenomic services keep up to date with technology and have documents that provide guidance in this constantly evolving scenario. These new guidelines therefore aim to provide an updated, practical and easily available document that will enable genetic laboratories to operate within acceptable standards and to maintain a quality service.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationEur J Hum Genet. 2019 Jan;27(1):1-16. doi: 10.1038/s41431-018-0244-x. Epub 2018 Oct 1.pt_PT
dc.identifier.doi10.1038/s41431-018-0244-xpt_PT
dc.identifier.issn1018-4813
dc.identifier.urihttp://hdl.handle.net/10400.18/5665
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherSpringer Nature/ European Society of Human Geneticspt_PT
dc.relation.publisherversionhttps://www.nature.com/articles/s41431-018-0244-x.pdfpt_PT
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/pt_PT
dc.subjectChromosomal Disorderspt_PT
dc.subjectDiagnosispt_PT
dc.subjectCytogeneticspt_PT
dc.subjectCytogenomic Analysispt_PT
dc.subjectGenetic Laboratoriespt_PT
dc.subjectQualitypt_PT
dc.subjectGuidelinespt_PT
dc.subjectEuropept_PT
dc.titleEuropean guidelines for constitutional cytogenomic analysispt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.titleEuropean Journal of Human Geneticspt_PT
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT

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