Dr. Jenny Ji, Assistant Director, Children's Hospital Los Angeles talks about a case with no clinical findings via sequence variant analysis was re-evaluated to identify potentially undetected CNVs or heterozygous events. Existing WES data was processed via the BAM MSR algorithm in NxClinical to detect CNVs and from NGS. Re-evaluation of the case in an integrated manner considering CNV, heterozygosity, and sequence variants together allowed detection of a compound heterozygous event (AOH overlapping a possible pathogenic TP53 variant).
Want to learn more? Access our tech tour: How can I apply combinatorial analysis within a simple workflow?
