Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases
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DOI: 10.1186/s13073-019-0639-5
Abstract: BackgroundExome sequencing (ES) has been successfully applied in clinical detection of single nucleotide variants (SNVs) and small indels. However, identification of copy number variants (CNVs) using ES data remains challenging. The purpose of this study… read more here.
Keywords: molecular diagnoses; copy number; detection; runs homozygosity ... See more keywords