Low Pass-Genome Sequencing: Validation and diagnostic utility from 409 clinical cases of low-pass genome sequencing for the detection of copy number variants (CNVs) to replace constitutional microarray

DNA copy-number variants (CNVs) account for approximately 300 Mb of sequence variation in the normal human genome. Significant numbers of pathogenic CNVs contribute towards human genetic disorders. Recent studies suggest a higher diagnostic and clinical significance of low-pass genome sequencing (LP-GS) compared to microarrays (CMA). The performance metrics of the 5X LP-GS was compared to CMA to validate a low-cost and high throughput method. LP-GS test performed on 409 samples (including 78 validation and 331 clinical) were evaluated using American College of Medical Genetics and Genomics guidelines.

Source: Journal of Molecular Diagnostics - April 24, 2020 Category: Pathology Authors: Alka Chaubey, Suresh Shenoy, Abhinav Mathur, Zeqiang Ma, C. Alexander Valencia, Babi Ramesh Reddy Nallamilli, Edward Szekeres, Leah Stansberry, Ruby Liu, Madhuri R. Hegde Tags: Regular Article Source Type: research