Reinterpretation, reclassification, and its downstream effects: challenges for clinical laboratory geneticists

BACKGROUND: In recent years, the amount of genomic data produced in clinical genetics services has increased significantly due to the advent of next-generation sequencing. This influx of genomic information leads to continuous changes in knowledge on how genetic variants relate to hereditary disease...

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Detalles Bibliográficos
Autores principales: El Mecky, Julia, Johansson, Lennart, Plantinga, Mirjam, Fenwick, Angela, Lucassen, Anneke, Dijkhuizen, Trijnie, van der Hout, Annemieke, Lyle, Kate, van Langen, Irene
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6883538/
https://www.ncbi.nlm.nih.gov/pubmed/31779608
http://dx.doi.org/10.1186/s12920-019-0612-6

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6883538/
https://www.ncbi.nlm.nih.gov/pubmed/31779608
http://dx.doi.org/10.1186/s12920-019-0612-6

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