At a glance:
A complete map of genomic variation is important to gain insight into genetic characterization and to aid in precision disease research, which can further address research areas such as evolution, agriculture, and medicine. Although short-read long sequencing can accurately detect single nucleotide polymorphisms (SNPs), insertion or deletion changes (InDel) occurring in gene sequences for smaller types of variants, it has limited sensitivity for detection of copy number variants (CNVs) and structural variants (SVs).
In recent years, with the breakthrough innovation of sequencing platforms, long-read-length sequencing has been widely used in genome research, which is able to effectively analyze complex genome structures, including SV, CNV, and DNA-protein interaction studies, providing a more comprehensive genomic perspective for finding disease-related variants. The high accuracy of long-read-long technology also makes it possible to discover rare variants that may have been missed by short-read-long sequencing technology, providing more precise genetic variant information for basic research in precision medicine.
Long-read sequencing sequences natural DNA molecules, generating reads 10-1 million base pairs in length and providing information on DNA methylation. Oxford Nanopore Technologies (ONT) and Pacific Biosciences (PacBio) have developed long-read sequencing technologies that provide a comprehensive understanding of genomic variation. We provide state-of-the-art PacBio SMRT Sequencing and Oxford Nanopore Sequencing platforms to help you reveal unseen genomic variants.
Targeted long-read sequencing identifies additional structural differences not observed by standard clinical testing. (Miller DE et al., 2021)
Complex structural variation studies
Complex structural variants that are difficult to detect with short read lengths can be detected, including inversions, deletions, or translocations of large segments, some of which are associated with areas such as genetic diseases. We offer specialized human genome structural variation detection services to comprehensively detect SVs at high resolution, including large insertions, deletions, inversions, duplications, translocations, and complex combinations of these mutations.
Can help diagnose cancers and rare diseases caused by structural variants, such as Mendelian inheritance diseases, Carney complex, etc.
Previous population-level studies, including genome-wide association studies, have not yet fully resolved the genetic factors behind human traits and diseases. Advances in sequencing technology and bioinformatics have paved the way for population-level long-read sequencing studies.
For research purposes only, not intended for personal diagnosis, clinical testing, or health assessment