The predominant method for large-scale population research analysis of whole-genomes has historically involved sequencing an individual genome using short-reads, and aligning to a consensus reference sequence. Shortcomings of this method include loss of haplotype knowledge, genetic phasing information, and structural variation. While short-read sequencing provides sufficient power to call single nucleotide variants (SNVs) across most of the consensus genome, a comprehensive analysis of the genome of each unique individual is not possible.
The 10x Genomics? Chromium? Genome Solution uses the power of Linked-Reads, a unique data type, to tag short reads from the same high molecular weight genomic DNA fragment with molecular barcodes, thus allowing the placement of short-read information in the context of the whole genome. This unique approach resolves genetic phasing and structural variation, and detects variants in previously inaccessible and complex regions of the genome.
PerkinElmer and 10x Genomics have created an efficient, automated workflow to maximize high molecular weight gDNA extraction, sample QC, and sample prep, providing Linked-Reads sequencing capabilities for a variety of sample types including saliva, dried blood spots, blood, and plasma.
For research use only. Not for use in diagnostic procedures.