Efficient CNV breakpoint analysis reveals unexpected structural complexity and correlation of dosage‐sensitive genes with clinical severity in genomic disorders
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DOI: 10.1093/hmg/ddx102
Abstract: &NA; Genomic disorders are the clinical conditions manifested by submicroscopic genomic rearrangements including copy number variants (CNVs). The CNVs can be identified by array‐based comparative genomic hybridization (aCGH), the most commonly used technology for molecular… read more here.
Keywords: structural complexity; genomic disorders; dosage sensitive; cnv breakpoint ... See more keywords