Human Genome Sequencing Using Unchained Base Reads on Self-Assembling DNA Nanoarrays
Radoje DrmanacComplete Genomics, Inc., 2071 Stierlin Court, Mountain View, CA 94043, USAAndrew B. SparksComplete Genomics, Inc., 2071 Stierlin Court, Mountain View, CA 94043, USAMatthew J. CallowComplete Genomics, Inc., 2071 Stierlin Court, Mountain View, CA 94043, USAAaron L. HalpernComplete Genomics, Inc., 2071 Stierlin Court, Mountain View, CA 94043, USANorman BurnsComplete Genomics, Inc., 2071 Stierlin Court, Mountain View, CA 94043, USABahram G. KermaniComplete Genomics, Inc., 2071 Stierlin Court, Mountain View, CA 94043, USAP. CarnevaliComplete Genomics, Inc., 2071 Stierlin Court, Mountain View, CA 94043, USAIgor NazarenkoComplete Genomics, Inc., 2071 Stierlin Court, Mountain View, CA 94043, USAGeoffrey B. NilsenComplete Genomics, Inc., 2071 Stierlin Court, Mountain View, CA 94043, USAGeorge YeungComplete Genomics, Inc., 2071 Stierlin Court, Mountain View, CA 94043, USAFredrik A. DahlComplete Genomics, Inc., 2071 Stierlin Court, Mountain View, CA 94043, USAAndres FernandezComplete Genomics, Inc., 2071 Stierlin Court, Mountain View, CA 94043, USABryan StakerComplete Genomics, Inc., 2071 Stierlin Court, Mountain View, CA 94043, USAKrishna Prasad PantComplete Genomics, Inc., 2071 Stierlin Court, Mountain View, CA 94043, USAJonathan BaccashComplete Genomics, Inc., 2071 Stierlin Court, Mountain View, CA 94043, USAAdam BorcherdingComplete Genomics, Inc., 2071 Stierlin Court, Mountain View, CA 94043, USAAnushka BrownleyComplete Genomics, Inc., 2071 Stierlin Court, Mountain View, CA 94043, USARyan James CedenoComplete Genomics, Inc., 2071 Stierlin Court, Mountain View, CA 94043, USALinsu ChenComplete Genomics, Inc., 2071 Stierlin Court, Mountain View, CA 94043, USADan ChernikoffComplete Genomics, Inc., 2071 Stierlin Court, Mountain View, CA 94043, USAAlex CheungComplete Genomics, Inc., 2071 Stierlin Court, Mountain View, CA 94043, USARazvan ChiritaComplete Genomics, Inc., 2071 Stierlin Court, Mountain View, CA 94043, USABenjamin CursonComplete Genomics, Inc., 2071 Stierlin Court, Mountain View, CA 94043, USAJessica EbertComplete Genomics, Inc., 2071 Stierlin Court, Mountain View, CA 94043, USAColeen R. HackerComplete Genomics, Inc., 2071 Stierlin Court, Mountain View, CA 94043, USARobert HartlageComplete Genomics, Inc., 2071 Stierlin Court, Mountain View, CA 94043, USABrian HauserComplete Genomics, Inc., 2071 Stierlin Court, Mountain View, CA 94043, USASteve HuangComplete Genomics, Inc., 2071 Stierlin Court, Mountain View, CA 94043, USAYuan JiangComplete Genomics, Inc., 2071 Stierlin Court, Mountain View, CA 94043, USAVitali KarpinchykComplete Genomics, Inc., 2071 Stierlin Court, Mountain View, CA 94043, USAMark KoenigComplete Genomics, Inc., 2071 Stierlin Court, Mountain View, CA 94043, USACalvin KongComplete Genomics, Inc., 2071 Stierlin Court, Mountain View, CA 94043, USATom LandersComplete Genomics, Inc., 2071 Stierlin Court, Mountain View, CA 94043, USACatherine T. LeComplete Genomics, Inc., 2071 Stierlin Court, Mountain View, CA 94043, USAJia LiuComplete Genomics, Inc., 2071 Stierlin Court, Mountain View, CA 94043, USACeleste McBrideComplete Genomics, Inc., 2071 Stierlin Court, Mountain View, CA 94043, USAMatt MorenzoniComplete Genomics, Inc., 2071 Stierlin Court, Mountain View, CA 94043, USARobert MoreyComplete Genomics, Inc., 2071 Stierlin Court, Mountain View, CA 94043, USAKarl MutchComplete Genomics, Inc., 2071 Stierlin Court, Mountain View, CA 94043, USAHelena PerazichComplete Genomics, Inc., 2071 Stierlin Court, Mountain View, CA 94043, USAKimberly J. PerryComplete Genomics, Inc., 2071 Stierlin Court, Mountain View, CA 94043, USABrock A. PetersComplete Genomics, Inc., 2071 Stierlin Court, Mountain View, CA 94043, USAJoe PetersonComplete Genomics, Inc., 2071 Stierlin Court, Mountain View, CA 94043, USACharit L. PethiyagodaComplete Genomics, Inc., 2071 Stierlin Court, Mountain View, CA 94043, USAKaliprasad PothurajuComplete Genomics, Inc., 2071 Stierlin Court, Mountain View, CA 94043, USAClaudia RichterComplete Genomics, Inc., 2071 Stierlin Court, Mountain View, CA 94043, USAAbraham M. RosenbaumDepartment of Genetics, Harvard Medical School, Cambridge, MA 02115, USAShaunak RoyComplete Genomics, Inc., 2071 Stierlin Court, Mountain View, CA 94043, USAJay ShaftoComplete Genomics, Inc., 2071 Stierlin Court, Mountain View, CA 94043, USAUladzislau SharanhovichComplete Genomics, Inc., 2071 Stierlin Court, Mountain View, CA 94043, USAKaren W. ShannonComplete Genomics, Inc., 2071 Stierlin Court, Mountain View, CA 94043, USAConrad G. SheppyComplete Genomics, Inc., 2071 Stierlin Court, Mountain View, CA 94043, USAMichel M. SunComplete Genomics, Inc., 2071 Stierlin Court, Mountain View, CA 94043, USAJoseph V. ThakuriaDepartment of Genetics, Harvard Medical School, Cambridge, MA 02115, USAAnne TranComplete Genomics, Inc., 2071 Stierlin Court, Mountain View, CA 94043, USADylan VuComplete Genomics, Inc., 2071 Stierlin Court, Mountain View, CA 94043, USAAlexander Wait ZaranekDepartment of Genetics, Harvard Medical School, Cambridge, MA 02115, USAXiaodi WuSchool of Medicine, Washington University, St. Louis, St. Louis, MO 63110, USASnezana DrmanacComplete Genomics, Inc., 2071 Stierlin Court, Mountain View, CA 94043, USAArnold OliphantComplete Genomics, Inc., 2071 Stierlin Court, Mountain View, CA 94043, USAW. C. BanyaiComplete Genomics, Inc., 2071 Stierlin Court, Mountain View, CA 94043, USABruce MartinComplete Genomics, Inc., 2071 Stierlin Court, Mountain View, CA 94043, USADennis G. BallingerComplete Genomics, Inc., 2071 Stierlin Court, Mountain View, CA 94043, USAGeorge M. ChurchDepartment of Genetics, Harvard Medical School, Cambridge, MA 02115, USAClifford A. ReidComplete Genomics, Inc., 2071 Stierlin Court, Mountain View, CA 94043, USA
2009en
ABI
Annotatsiya
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.
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