⮱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.