Human genome sequencing using unchained base reads on self-assembling DNA nanoarrays - PubMed (original) (raw)

. 2010 Jan 1;327(5961):78-81.

doi: 10.1126/science.1181498. Epub 2009 Nov 5.

Andrew B Sparks, Matthew J Callow, Aaron L Halpern, Norman L Burns, Bahram G Kermani, Paolo Carnevali, Igor Nazarenko, Geoffrey B Nilsen, George Yeung, Fredrik Dahl, Andres Fernandez, Bryan Staker, Krishna P Pant, Jonathan Baccash, Adam P Borcherding, Anushka Brownley, Ryan Cedeno, Linsu Chen, Dan Chernikoff, Alex Cheung, Razvan Chirita, Benjamin Curson, Jessica C Ebert, Coleen R Hacker, Robert Hartlage, Brian Hauser, Steve Huang, Yuan Jiang, Vitali Karpinchyk, Mark Koenig, Calvin Kong, Tom Landers, Catherine Le, Jia Liu, Celeste E McBride, Matt Morenzoni, Robert E Morey, Karl Mutch, Helena Perazich, Kimberly Perry, Brock A Peters, Joe Peterson, Charit L Pethiyagoda, Kaliprasad Pothuraju, Claudia Richter, Abraham M Rosenbaum, Shaunak Roy, Jay Shafto, Uladzislau Sharanhovich, Karen W Shannon, Conrad G Sheppy, Michel Sun, Joseph V Thakuria, Anne Tran, Dylan Vu, Alexander Wait Zaranek, Xiaodi Wu, Snezana Drmanac, Arnold R Oliphant, William C Banyai, Bruce Martin, Dennis G Ballinger, George M Church, Clifford A Reid

Affiliations

Human genome sequencing using unchained base reads on self-assembling DNA nanoarrays

Radoje Drmanac et al. Science. 2010.

Abstract

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.

PubMed Disclaimer

Similar articles

Cited by

Publication types

MeSH terms

Substances

LinkOut - more resources