De Novo Genome Sequencing

Genome assemblies that are accurate, complete, and contiguous are essential for identifying important structural and functional elements of genomes and for identifying genetic variation.

Whole genome sequencing reveals the complete DNA makeup of an organism, providing the most detailed resolution of genetic and epigenetic variations. With today's technology, the process of sequencing genomes involves breaking the genome into smaller fragments, and then piecing them back together during analysis using de novo assembly methods or by mapping the reads to a pre-existing reference. Just like assembling a jigsaw puzzle, the larger the pieces, the easier it is to put them back together.

Single Molecule, Real-Time Sequencing on the RSII and Sequel systems delivers long read lengths with the highest consensus accuracy and uniform coverage, allowing you to go beyond fragmented draft genomes and generate the most comprehensive de novo assemblies. True whole genome sequencing with the PacBio Systems provides complete and accurate views of all types of genomic variation, revealing SNPs/SNVs, structural variants, mobile elements, haplotypes, epigenetics, and variants in low-complexity regions.

Retaining long-range contiguity throughout the genome mapping process is critical for any comprehensive study of genome structure and function, in particular de novo sequence scaffolding and analysis of structural variation in complex genomes. BioNano genome maps provide dense genome-wide anchor points for ordering and orienting sequencing contigs or scaffolds to greatly increase completion and accuracy of de novo assemblies.


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