Study of 99 pediatric patients found clinically significant CNVs in 30% of cases, supporting CMA as a first-tier test for developmental delay and ID. Clinically significant CNVs were identified in 30% ...

Abstract: Copy number variations (CNVs) are a type of structural variation in the genome that impact gene dosage, with significant implications for both normal phenotypic variability and ...

Background: Developmental delay (DD) and intellectual disability (ID) are prevalent in children and often have genetic causes, particularly copy number variations (CNVs). Chromosomal microarray ...

*These authors contributed equally to the preparation of this manuscript. Cell-based technologies for printing protein microarrays are faced with poor protein expression, protein insolubility, ...

Oxford Gene Technology has announced the launch of its newly updated NGS SureSeq™ CLL + CNV V3 Panel. This new panel was designed to offer users more comprehensive variant detection to improve ...

Abstract: Accurate detection of copy number variations (CNVs) from sequencing data is crucial in many complex traits and diseases research. Although many CNV detection algorithms have been developed, ...

Join us to explore the latest advancements in pharmacogenomic (PGx) analysis with our newly launched Infinium microarrays and DRAGEN Array software. The Infinium Global Clinical Research Array with ...

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