Many benefits are inherent in whole genome sequencing (WGS) technology, including unique opportunities for detection of structural variants. Yet such analyses have generally not made their way into clinical practice.

Listen in as we describe the clinically validated WGS pipeline that we have developed for highly specific and sensitive detection of structural variants. We will discuss the combined use of breakpoint analysis, read depth analysis and de novo assembly of tandem nucleotide repeatsĀ and trinucleotide tandem repeats to identify structural variants down to single base pair resolution. Minimization of false positives, annotation of identified variants and representative examples will also be discussed.

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