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

Author:

Drmanac Radoje1,Sparks Andrew B.1,Callow Matthew J.1,Halpern Aaron L.1,Burns Norman L.1,Kermani Bahram G.1,Carnevali Paolo1,Nazarenko Igor1,Nilsen Geoffrey B.1,Yeung George1,Dahl Fredrik1,Fernandez Andres1,Staker Bryan1,Pant Krishna P.1,Baccash Jonathan1,Borcherding Adam P.1,Brownley Anushka1,Cedeno Ryan1,Chen Linsu1,Chernikoff Dan1,Cheung Alex1,Chirita Razvan1,Curson Benjamin1,Ebert Jessica C.1,Hacker Coleen R.1,Hartlage Robert1,Hauser Brian1,Huang Steve1,Jiang Yuan1,Karpinchyk Vitali1,Koenig Mark1,Kong Calvin1,Landers Tom1,Le Catherine1,Liu Jia1,McBride Celeste E.1,Morenzoni Matt1,Morey Robert E.1,Mutch Karl1,Perazich Helena1,Perry Kimberly1,Peters Brock A.1,Peterson Joe1,Pethiyagoda Charit L.1,Pothuraju Kaliprasad1,Richter Claudia1,Rosenbaum Abraham M.2,Roy Shaunak1,Shafto Jay1,Sharanhovich Uladzislau1,Shannon Karen W.1,Sheppy Conrad G.1,Sun Michel1,Thakuria Joseph V.2,Tran Anne1,Vu Dylan1,Zaranek Alexander Wait2,Wu Xiaodi3,Drmanac Snezana1,Oliphant Arnold R.1,Banyai William C.1,Martin Bruce1,Ballinger Dennis G.1,Church George M.2,Reid Clifford A.1

Affiliation:

1. Complete Genomics, Inc., 2071 Stierlin Court, Mountain View, CA 94043, USA.

2. Department of Genetics, Harvard Medical School, Cambridge, MA 02115, USA.

3. School of Medicine, Washington University, St. Louis, St. Louis, MO 63110, USA.

Abstract

Toward $1000 Genomes The ability to generate human genome sequence data that is complete, accurate, and inexpensive is a necessary prerequisite to perform genome-wide disease association studies. Drmanac et al. (p. 78 , published online 5 November) present a technique advancing toward this goal. The method uses Type IIS endonucleases to incorporate short oligonucleotides within a set of randomly sheared circularized DNA. DNA polymerase then generates concatenated copies of the circular oligonucleotides leading to formation of compact but very long oligonucleotides which are then sequenced by ligation. The relatively low cost of this technology, which shows a low error rate, advances sequencing closer to the goal of the $1000 genome.

Publisher

American Association for the Advancement of Science (AAAS)

Subject

Multidisciplinary

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