Utilize este identificador para referenciar este registo: http://hdl.handle.net/10400.18/5665
Título: European guidelines for constitutional cytogenomic analysis
Autor: Silva, Marisa
de Leeuw, Nicole
Mann, Kathy
Schuring-Blom, Heleen
Morgan, Sian
Giardino, Daniela
Rack, Katrina
Hastings, Ros
Palavras-chave: Chromosomal Disorders
Diagnosis
Cytogenetics
Cytogenomic Analysis
Genetic Laboratories
Quality
Guidelines
Europe
Data: 1-Out-2018
Editora: Springer Nature/ European Society of Human Genetics
Citação: Eur J Hum Genet. 2018 Oct 1. doi: 10.1038/s41431-018-0244-x. [Epub ahead of print]
Resumo: With 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.
Peer review: yes
URI: http://hdl.handle.net/10400.18/5665
DOI: 10.1038/s41431-018-0244-x
ISSN: 1018-4813
Versão do Editor: https://www.nature.com/articles/s41431-018-0244-x.pdf
Aparece nas colecções:DGH - Artigos em revistas internacionais

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