Facilitates the reliable identification of single nucleotide variants (SNVs), small insertions/delations (indels), and other genetic alterations, including those present at low allele frequencies, which is crucial for identifying disease-causing mutations in rare genetic disorders or somatic variants in cancer.
The inherent accuracy of the system contributes to lower sequencing error rates, which can streamline downstream data processing and reduce the need for extensive validation of potential artifacts, particularly important for clinical diagnostic pipelines.
Data generated with high fidelity provides a solid foundation for complex bioinformatics analyses, supporting confidence in scientific interpretations and enabling more reliable conclusions from multi-omic studies.
Applicable for whole-genome sequencing (WGS) and whole-exome sequencing (WES), providing a detailed view of genetic variation across the genome or exome, including the resolution of complex genomic regions and structural variants for de novo assemblies.
Supports focused analysis of specific genomic regions, enabling deep coverage for genes or loci of interest, valuable for in-depth analysis of specific disease panels or validation of CRISPR/Cas9 edits.
The precision of the AVITI system is beneficial for identifying and validating genetic biomarkers in areas such as oncology and inherited diseases, contributing to the development of precision medicine strategies.
Its accuracy and reliability contribute to its utility in clinical sequencing applications where data integrity is a primary consideration for patient diagnostics and personalized treatment planning.
