European guidelines for constitutional cytogenomic analysis.
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ABSTRACT:
SUBMITTER: Silva M
PROVIDER: S-EPMC6303289 | biostudies-literature | 2019 Jan
REPOSITORIES: biostudies-literature
Publications
European guidelines for constitutional cytogenomic analysis.
Silva Marisa M de Leeuw Nicole N Mann Kathy K Schuring-Blom Heleen H Morgan Sian S Giardino Daniela D Rack Katrina K Hastings Ros R
European journal of human genetics : EJHG 20181001 1
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 n ...[more]
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