Comparing saliva and blood for the detection of mosaic genomic abnormalities that cause syndromic intellectual disability

We aimed to determine whether SNP-microarray genomic testing of saliva had a greater diagnostic yield than blood for pathogenic copy number variants (CNVs). We selected patients who underwent CMA testing of both blood and saliva from 23,289 blood and 21,857 saliva samples. Our cohort comprised 370 i...

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Detalles Bibliográficos
Autores principales: Francis, David I., Stark, Zornitza, Scheffer, Ingrid E., Tan, Tiong Yang, Murali, Krithika, Gallacher, Lyndon, Amor, David J., Goel, Himanshu, Downie, Lilian, Stutterd, Chloe A., Krzesinski, Emma I., Vasudevan, Anand, Oertel, Ralph, Petrovic, Vida, Boys, Amber, Wei, Vivian, Burgess, Trent, Dun, Karen, Oliver, Karen L., Baxter, Anne, Hackett, Anna, Ayres, Samantha, Lunke, Sebastian, Kalitsis, Paul, Wall, Meaghan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer International Publishing 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10172398/
https://www.ncbi.nlm.nih.gov/pubmed/36446895
http://dx.doi.org/10.1038/s41431-022-01232-5

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