Publication Date:
2009-11-07
Description:
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.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉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 -- Hauser, 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 -- New York, N.Y. -- Science. 2010 Jan 1;327(5961):78-81. doi: 10.1126/science.1181498. Epub 2009 Nov 5.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Complete Genomics, Inc., 2071 Stierlin Court, Mountain View, CA 94043, USA. rdrmanac@completegenomics.com〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/19892942" target="_blank"〉PubMed〈/a〉
Keywords:
Base Sequence
;
Computational Biology
;
Costs and Cost Analysis
;
DNA/*chemistry/genetics
;
Databases, Nucleic Acid
;
*Genome, Human
;
Genomic Library
;
Genotype
;
Haplotypes
;
Human Genome Project
;
Humans
;
Male
;
*Microarray Analysis
;
Nanostructures
;
Nanotechnology
;
Nucleic Acid Amplification Techniques
;
Polymorphism, Single Nucleotide
;
Sequence Analysis, DNA/economics/instrumentation/*methods/standards
;
Software
Print ISSN:
0036-8075
Electronic ISSN:
1095-9203
Topics:
Biology
,
Chemistry and Pharmacology
,
Computer Science
,
Medicine
,
Natural Sciences in General
,
Physics
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