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

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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Bibliographic Details
Main Authors: Hayk Barseghyan, Andy Wing Chun Pang, Benjamin Clifford, Moises A. Serrano, Alka Chaubey, Alex R. Hastie
Format: Article
Language:English
Published: MDPI AG 2023-09-01
Series:Genes
Subjects:
optical genome mapping
OGM
Saphyr
chromosomal microarray
CMA
SVs
Online Access:https://www.mdpi.com/2073-4425/14/10/1868

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https://www.mdpi.com/2073-4425/14/10/1868

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