Complete Genomics’ approach for sequencing thousands of human genomes and determining accurate genome variant lists

Radoje Drmanac
Complete Genomics, Inc.

Complete Genomics has sequenced over 2,400 complete human genomes as of June 30, 2011, with an average of 55x coverage. The company has the capacity to sequence more than 600 genomes per month using unique patterned DNA nanoarrays and unchained base reading. We expect to introduce new instruments with 10-fold higher throughput in 2012. We have developed sophisticated algorithms and software to obtain 1) accurate primary base calls and quality measures, 2) reads mapped to a reference sequence and 3) lists of annotated genomic variants and their confidence levels by implementing local de novo sequence assembly. Over 95% of the genome is called with high accuracy (less than 1 error in 100kb, on average). Furthermore, we recently demonstrated a novel DNA preprocessing and tagging approach that provides highly accurate genome haplotyping with one error in 10 million bases. Such accurate high-throughput sequencing of human genomes with full haplotyping is critical for the implementation of genomic medicine and the use of personal genome sequences as universal genetic tests.

Back to Workshop I: Next-generation Sequencing Technology and Algorithms for Primary Data Analysis