Article

Comparative benchmarking of optical genome mapping and chromosomal microarray reveals high technological concordance in CNV identification and structural variant refinement

2023-01-22

Abstract excerpt

<h4>ABSTRACT</h4> <h4>PURPOSE</h4> 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 microarray (CMA), Fragile-X testing, karyotype analysis, and/or sequencing based gene p...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: d0f129f5-ea12-503a-ba92-6dfc4ebf6e1f
DOI: 10.1101/2023.01.21.23284853

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Comparative benchmarking of optical genome mapping and chromosomal microarray reveals high technological concordance in CNV identification and structural variant refinementDOI 10.1101/2023.01.21.23284853Read

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

Optical Genome Mapping as a Next-Generation Cytogenomic Tool for Detection of Structural and Copy Number Variations for Prenatal Genomic AnalysesSemantic proximity Read

Optical genome mapping as a next-generation cytogenomic tool for detection of structural and copy number variations for prenatal genomic analysesSemantic proximity Read

Multisite Study of Optical Genome Mapping of Retrospective and Prospective Constitutional Disorder CohortsSemantic proximity Read

Clinical Validation and Diagnostic Utility of Optical Genome Mapping in Prenatal Diagnostic TestingSemantic proximity Read

Multi-site Technical Performance and Concordance of Optical Genome Mapping: Constitutional Postnatal Study for SV, CNV, and Repeat Array AnalysisSemantic proximity Read

Clinical Validation and Diagnostic Utility of Optical Genome Mapping in Prenatal Diagnostic TestingSemantic proximity Read

Multisite Evaluation and Validation of Optical Genome Mapping for Prenatal Genetic TestingSemantic proximity Read

Optical genome mapping to decipher the chromosomal aberrations in families seeking for preconception genetic counselingSemantic proximity Read

Optical Genome Mapping: A New Tool for Cytogenomic AnalysisSemantic proximity Read

Completely resolved structural variants by optical genome mapping with adaptive sampling from CNV discoverySemantic proximity Read

Optical Genome Mapping as a Potential Routine Clinical Diagnostic MethodSemantic proximity Read