Comparative Benchmarking of Optical Genome Mapping and Chromosomal Microarray Reveals High Technological Concordance in CNV Identification and Additional Structural Variant Refinement

The recommended practice for individuals suspected of a genetic etiology for disorders including unexplained developmental delay/intellectual disability (DD/ID), autism spectrum disorders (ASD), and multiple congenital anomalies (MCA) involves a genetic testing workflow including chromosomal microar...

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Detalles Bibliográficos
Autores principales: Barseghyan, Hayk, Pang, Andy Wing Chun, Clifford, Benjamin, Serrano, Moises A., Chaubey, Alka, Hastie, Alex R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10667989/
https://www.ncbi.nlm.nih.gov/pubmed/37895217
http://dx.doi.org/10.3390/genes14101868

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10667989/
https://www.ncbi.nlm.nih.gov/pubmed/37895217
http://dx.doi.org/10.3390/genes14101868

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