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. 2015 Jan 14;5:466. doi: 10.3389/fgene.2014.00466

FIGURE 2.

FIGURE 2

Integrated “perfect genome” solution. Our preferred end-to-end proposal for achieving the perfect genome is summarized in this table. The “perfect genome” starts with an input of 10–100 unfixed cells. Cells are lysed and long DNA fragments with a broad length distribution are released and divided into 5,000 or more compartments. Subfragments 500–1,500 bp in length are generated, without long DNA amplification, and labeled with a barcode specific to each compartment (co-barcoded). All compartments are pooled into a single tube and advanced pair-end MPS using 300 base reads is performed, including reading 10 bases or longer barcode sequences. Reference unbiased phased de novo assembly of each parental chromosome is performed using k-mer read indexes on large terabyte RAM servers. Obtaining the “perfect genome” from a smaller number of cells (e.g., 10–20) would require maximal optimization of all steps.