Article
Low-Pass Genome Sequencing: Validation and Diagnostic Utility from 409 Clinical Cases of Low-Pass Genome Sequencing for the Detection of Copy Number Variants to Replace Constitutional Microarray.
The Journal of molecular diagnostics : JMD - 1 Jun 2020
Chaubey Alka, Shenoy Suresh, Mathur Abhinav, Ma Zeqiang, Valencia C Alexander, Reddy Nallamilli Babi R, Szekeres Edward, Stansberry Leah, Liu Ruby, Hegde Madhuri R
Abstract excerpt
DNA copy number variants (CNVs) account for approximately 300 Mb of sequence variation in the normal human genome. Significant numbers of pathogenic CNVs contribute toward human genetic disorders. Recent studies suggest a higher diagnostic and clinical significance of low-pass genome sequencing (LP-GS) compared with chromosomal microarrays (CMAs). The performance metrics of the 5X LP-GS was compared with CMA to...
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