PT  - JOURNAL ARTICLE
AU  - Drmanac, Radoje
AU  - Sparks, Andrew B.
AU  - Callow, Matthew J.
AU  - Halpern, Aaron L.
AU  - Burns, Norman L.
AU  - Kermani, Bahram G.
AU  - Carnevali, Paolo
AU  - Nazarenko, Igor
AU  - Nilsen, Geoffrey B.
AU  - Yeung, George
AU  - Dahl, Fredrik
AU  - Fernandez, Andres
AU  - Staker, Bryan
AU  - Pant, Krishna P.
AU  - Baccash, Jonathan
AU  - Borcherding, Adam P.
AU  - Brownley, Anushka
AU  - Cedeno, Ryan
AU  - Chen, Linsu
AU  - Chernikoff, Dan
AU  - Cheung, Alex
AU  - Chirita, Razvan
AU  - Curson, Benjamin
AU  - Ebert, Jessica C.
AU  - Hacker, Coleen R.
AU  - Hartlage, Robert
AU  - Hauser, Brian
AU  - Huang, Steve
AU  - Jiang, Yuan
AU  - Karpinchyk, Vitali
AU  - Koenig, Mark
AU  - Kong, Calvin
AU  - Landers, Tom
AU  - Le, Catherine
AU  - Liu, Jia
AU  - McBride, Celeste E.
AU  - Morenzoni, Matt
AU  - Morey, Robert E.
AU  - Mutch, Karl
AU  - Perazich, Helena
AU  - Perry, Kimberly
AU  - Peters, Brock A.
AU  - Peterson, Joe
AU  - Pethiyagoda, Charit L.
AU  - Pothuraju, Kaliprasad
AU  - Richter, Claudia
AU  - Rosenbaum, Abraham M.
AU  - Roy, Shaunak
AU  - Shafto, Jay
AU  - Sharanhovich, Uladzislau
AU  - Shannon, Karen W.
AU  - Sheppy, Conrad G.
AU  - Sun, Michel
AU  - Thakuria, Joseph V.
AU  - Tran, Anne
AU  - Vu, Dylan
AU  - Zaranek, Alexander Wait
AU  - Wu, Xiaodi
AU  - Drmanac, Snezana
AU  - Oliphant, Arnold R.
AU  - Banyai, William C.
AU  - Martin, Bruce
AU  - Ballinger, Dennis G.
AU  - Church, George M.
AU  - Reid, Clifford A.
TI  - Human Genome Sequencing Using Unchained Base Reads on Self-Assembling DNA Nanoarrays
AID  - 10.1126/science.1181498
DP  - 2010 Jan 01
TA  - Science
PG  - 78--81
VI  - 327
IP  - 5961
4099  - http://science.sciencemag.org/content/327/5961/78.short
4100  - http://science.sciencemag.org/content/327/5961/78.full
SO  - Science2010 Jan 01; 327
AB  - 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.