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Drmanac, Radoje; Sparks, Andrew B.; Callow, Matthew J.; Halpern, Aaron L.; Burns, Norman L.; Kermani, Bahram G.; Carnevali, Paolo; Nazarenko, Igor; Nilsen, Geoffrey B.; Yeung, George; Dahl, Fredrik; Fernandez, Andres; Staker, Bryan; Pant, Krishna P.; Baccash, Jonathan; Borcherding, Adam P.; Brownley, Anushka; Cedeno, Ryan; Chen, Linsu; Chernikoff, Dan; Cheung, Alex; Chirita, Razvan; Curson, Benjamin; Ebert, Jessica C.; Hacker, Coleen R.; Hartlage, Robert; Häuser, Brian; Huang, Steve; Jiang, Yuan; Karpinchyk, Vitali; Koenig, Mark; Kong, Calvin; Landers, Tom; Le, Catherine; Liu, Jia; McBride, Celeste E.; Morenzoni, Matt; Morey, Robert E.; Mutch, Karl; Perazich, Helena; Perry, Kimberly; Peters, Brock A.; Peterson, Joe; Pethiyagoda, Charit L.; Pothuraju, Kaliprasad; Richter, Claudia; Rosenbaum, Abraham M.; Roy, Shaunak; Shafto, Jay; Sharanhovich, Uladzislau; Shannon, Karen W.; Sheppy, Conrad G.; Sun, Michel; Thakuria, Joseph V.; Tran, Anne; Vu, Dylan; Zaranek, Alexander Wait; Wu, Xiaodi; Drmanac, Snezana; Oliphant, Arnold R.; Banyai, William C.; Martin, Bruce; Ballinger, Dennis G.; Church, George M.; Reid, Clifford A.
Science (American Association for the Advancement of Science), 01/2010, Letnik: 327, Številka: 5961Journal Article
Genome sequencing of large numbers of individuals promises to advance the understanding, treatment, and prevention of human diseases, among other applications. We describe a genome sequencing platform that achieves efficient imaging and low reagent consumption with combinatorial probe anchor ligation chemistry to independently assay each base from patterned nanoarrays of self-assembling DNA nanoballs. We sequenced three human genomes with this platform, generating an average of 45-to 87-fold coverage per genome and identifying 3.2 to 4.5 million sequence variants per genome. Validation of one genome data set demonstrates a sequence accuracy of about 1 false variant per 100 kilobases. The high accuracy, affordable cost of $4400 for sequencing consumables, and scalability of this platform enable complete human genome sequencing for the detection of rare variants in large-scale genetic studies.
