An Enhanced Clinical Exome with Integrated Analysis
A high level of gene finishing and inclusion of non-exonic interpretable content, all integrated within a fuller genetic context for greater sensitivity and a more thorough interpretation
“Finishing” the Clinical Exome and Providing Confidence in Gene Coverage
The ACE Clinical Exome Test provides additional targeted sequencing to fill in the gaps and address problematic regions not adequately addressed by standard exomes. By enhancing coverage for more than 8,000 biomedically important genes and providing clinically interpretable nonexonic content, the ACE Clinical Exome Test delivers the most accurate and comprehensive exome coverage available.
Highly Accurate Variant Detection
Our state-of-the-art informatics pipeline improves overall accuracy and sensitivity for calling single nucleotide variants, and indels. Personalis applies and integrates advanced tools for alignment, an improved reference genome sequence, sophisticated algorithms to discern different variant types, and knowledge of systematic biases inherent in sequencing technologies to deliver variant calls representative of the true variants present in the sample.
Comprehensive Analysis to Improve Diagnostic Yield
Our team of bioinformaticians, genetic counselors, and clinical molecular geneticists analyze variant results, leveraging annotations from both public variant databases and extensive manually-curated databases. We employ a phenotype-driven approach to analysis, systematically identifying and prioritizing variants in candidate genes based on clinical findings. Both common and unconventional inheritance patterns, such as de novo events in recessive disorders, mitochondrial inheritance, and non-penetrance, are considered. Aneuploidy is detected and routine assessment for regions of homozygosity provides insight regarding consanguinity and uniparental disomy.
Intuitive and Actionable Reports, Created by Clinicians for Clinicians
Each prioritized variant is examined in detail by Personalis’ clinical team of physicians, genetic counselors, bioinformaticians, and laboratory directors who determine if any of the variants identified are likely to be causally related to the clinical presentation. Results are presented in a clear, intuitive report so healthcare providers can rapidly understand and assess the results.