Human Genome Sequencing Using Unchained Base Reads on Self-Assembling DNA Nanoarrays Export

@article{citeulike:6080240, 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 (cPAL) chemistry to independently assay each base from patterned nanoarrays of self-assembling DNA nanoballs (DNBs). 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 \$4,400 for sequencing consumables and scalability of this platform enable complete human genome sequencing for the detection of rare variants in large-scale genetic studies. 10.1126/science.1181498}, author = {Drmanac, Radoje and Sparks, Andrew B. and Callow, Matthew J. and Halpern, Aaron L. and Burns, Norman L. and Kermani, Bahram G. and Carnevali, Paolo and Nazarenko, Igor and Nilsen, Geoffrey B. and Yeung, George and Dahl, Fredrik and Fernandez, Andres and Staker, Bryan and Pant, Krishna P. and Baccash, Jonathan and Borcherding, Adam P. and Brownley, Anushka and Cedeno, Ryan and Chen, Linsu and Chernikoff, Dan and Cheung, Alex and Chirita, Razvan and Curson, Benjamin and Ebert, Jessica C. and Hacker, Coleen R. and Hartlage, Robert and Hauser, Brian and Huang, Steve and Jiang, Yuan and Karpinchyk, Vitali and Koenig, Mark and Kong, Calvin and Landers, Tom and Le, Catherine and Liu, Jia and McBride, Celeste E. and Morenzoni, Matt and Morey, Robert E. and Mutch, Karl and Perazich, Helena and Perry, Kimberly and Peters, Brock A. and Peterson, Joe and Pethiyagoda, Charit L. and Pothuraju, Kaliprasad and Richter, Claudia and Rosenbaum, Abraham M. and Roy, Shaunak and Shafto, Jay and Sharanhovich, Uladzislau and Shannon, Karen W. and Sheppy, Conrad G. and Sun, Michel and Thakuria, Joseph V. and Tran, Anne and Vu, Dylan and Zaranek, Alexander W. and Wu, Xiaodi and Drmanac, Snezana and Oliphant, Arnold R. and Banyai, William C. and Martin, Bruce and Ballinger, Dennis G. and Church, George M. and Reid, Clifford A.}, citeulike-article-id = {6080240}, citeulike-linkout-0 = {http://dx.doi.org/10.1126/science.1181498}, citeulike-linkout-1 = {http://www.sciencemag.org/content/1181498/.abstract}, citeulike-linkout-2 = {http://www.sciencemag.org/content/1181498/.full.pdf}, citeulike-linkout-3 = {http://view.ncbi.nlm.nih.gov/pubmed/19892942}, citeulike-linkout-4 = {http://www.hubmed.org/display.cgi?uids=19892942}, day = {5}, doi = {10.1126/science.1181498}, issn = {1095-9203}, journal = {Science}, keywords = {methods, snps}, month = {November}, pages = {1181498+}, posted-at = {2009-11-13 13:18:20}, priority = {2}, title = {Human Genome Sequencing Using Unchained Base Reads on Self-Assembling DNA Nanoarrays}, url = {http://dx.doi.org/10.1126/science.1181498}, year = {2009} }

TY - JOUR ID - citeulike:6080240 L3 - citeulike-article-id:6080240 N2 - 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 (cPAL) chemistry to independently assay each base from patterned nanoarrays of self-assembling DNA nanoballs (DNBs). 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 $4,400 for sequencing consumables and scalability of this platform enable complete human genome sequencing for the detection of rare variants in large-scale genetic studies. 10.1126/science.1181498 JF - Science SN - 1095-9203 TI - Human Genome Sequencing Using Unchained Base Reads on Self-Assembling DNA Nanoarrays SP - 1181498 KW - methods KW - snps AU - Drmanac, Radoje AU - Sparks, Andrew AU - Callow, Matthew AU - Halpern, Aaron AU - Burns, Norman AU - Kermani, Bahram AU - Carnevali, Paolo AU - Nazarenko, Igor AU - Nilsen, Geoffrey AU - Yeung, George AU - Dahl, Fredrik AU - Fernandez, Andres AU - Staker, Bryan AU - Pant, Krishna AU - Baccash, Jonathan AU - Borcherding, Adam AU - Brownley, Anushka AU - Cedeno, Ryan AU - Chen, Linsu AU - Chernikoff, Dan AU - Cheung, Alex AU - Chirita, Razvan AU - Curson, Benjamin AU - Ebert, Jessica AU - Hacker, Coleen 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 AU - Morenzoni, Matt AU - Morey, Robert AU - Mutch, Karl AU - Perazich, Helena AU - Perry, Kimberly AU - Peters, Brock AU - Peterson, Joe AU - Pethiyagoda, Charit AU - Pothuraju, Kaliprasad AU - Richter, Claudia AU - Rosenbaum, Abraham AU - Roy, Shaunak AU - Shafto, Jay AU - Sharanhovich, Uladzislau AU - Shannon, Karen AU - Sheppy, Conrad AU - Sun, Michel AU - Thakuria, Joseph AU - Tran, Anne AU - Vu, Dylan AU - Zaranek, Alexander AU - Wu, Xiaodi AU - Drmanac, Snezana AU - Oliphant, Arnold AU - Banyai, William AU - Martin, Bruce AU - Ballinger, Dennis AU - Church, George AU - Reid, Clifford PY - 2009/11/05/ UR - http://dx.doi.org/10.1126/science.1181498 ER -