In 2019, the USFDA approved Zolgensma®, a gene therapy drug vectored by Adeno-Associated Virus (AAV), for the treatment of the rare disease neonatal spinal muscular atrophy (SMA). AAV as a vector is a non-enveloped DNA virus. Its genome consists of a single-stranded DNA of approximately 4.7kb, with an inverted terminal repeat (ITR) on each side.

The ITR sequence serves as the starting point of DNA replication. It is the primer when DNA polymerase synthesizes the sequence, and it is also the region that controls the transcriptional activity of therapeutic genes. Because Next Generation Sequencing (NGS) is hindered by repetitive sequences and secondary structures, the sequencing quality is poor, and even accurate or usable data cannot be obtained at all. Therefore, it is not easy for us to observe ITR through sequencing.

To advance scientific research, AccuGenomics partner with industry experts to produce solutions specifically designed to address AAV ITR sequencing challenges.

AccuGenomics Accukit ITR-26Index-CC DNA IS Features.

1.    Enhanced Monitoring of ITR Yield:
In ITR, the order of the repeat can be used to define whether its direction is flip or flop. Accukit accurately assesses ITR yield by measuring the directionality of the 3 prime ends of each base and using the read depth ratio between the sample and the internal standard.

2.    Sample Index Tracking (IX):
Accukit provides a unique index that can be used for 26 parallel samples, so researchers can ensure that sample input corresponds to the output of biological information, and can create additional indexes for higher-volume workflows.

3.    Comprehensive Complexity Capture (CC) Measurement:
Accukit provides a novel Complexity Capture measurement that quantifies the extent to which each sample is captured as a sample template in a sequencing read, allowing researchers to evaluate the efficiency and completeness of their sequencing methods.

4.    Accelerate Discovery and Development:
AccuGenomics' Accukit has the potential to transform AAV ITR sequencing and accelerate development in critical areas by solving challenges related to repetitive sequences, structural variation, secondary structure, read length limitations and sequence misunderstandings.

If you have relevant needs or questions, feel free to contact us!