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Ultralow-input single-tube linked-read library method enables short-read second-generation sequencing systems to routinely generate highly accurate and economical long-range sequencing information.
Chen, Zhoutao; Pham, Long; Wu, Tsai-Chin; Mo, Guoya; Xia, Yu; Chang, Peter L; Porter, Devin; Phan, Tan; Che, Huu; Tran, Hao; Bansal, Vikas; Shaffer, Justin; Belda-Ferre, Pedro; Humphrey, Greg; Knight, Rob; Pevzner, Pavel; Pham, Son; Wang, Yong; Lei, Ming.
Afiliación
  • Chen Z; Universal Sequencing Technology Corporation, Carlsbad, California 92011, USA.
  • Pham L; Universal Sequencing Technology Corporation, Carlsbad, California 92011, USA.
  • Wu TC; Universal Sequencing Technology Corporation, Carlsbad, California 92011, USA.
  • Mo G; Universal Sequencing Technology Corporation, Carlsbad, California 92011, USA.
  • Xia Y; Universal Sequencing Technology Corporation, Carlsbad, California 92011, USA.
  • Chang PL; Universal Sequencing Technology Corporation, Carlsbad, California 92011, USA.
  • Porter D; Universal Sequencing Technology Corporation, Carlsbad, California 92011, USA.
  • Phan T; Bioturing Incorporated, San Diego, California 92121, USA.
  • Che H; Bioturing Incorporated, San Diego, California 92121, USA.
  • Tran H; Bioturing Incorporated, San Diego, California 92121, USA.
  • Bansal V; Faculty of Information Technology, University of Science, Vietnam National University, Ho Chi Minh City, 700 000 Vietnam.
  • Shaffer J; Department of Pediatrics, University of California San Diego, La Jolla, California 92161, USA.
  • Belda-Ferre P; Center for Microbiome Innovation and Departments of Pediatrics, Bioengineering, and Computer Science and Engineering, University of California San Diego, La Jolla, California 92093, USA.
  • Humphrey G; Center for Microbiome Innovation and Departments of Pediatrics, Bioengineering, and Computer Science and Engineering, University of California San Diego, La Jolla, California 92093, USA.
  • Knight R; Center for Microbiome Innovation and Departments of Pediatrics, Bioengineering, and Computer Science and Engineering, University of California San Diego, La Jolla, California 92093, USA.
  • Pevzner P; Center for Microbiome Innovation and Departments of Pediatrics, Bioengineering, and Computer Science and Engineering, University of California San Diego, La Jolla, California 92093, USA.
  • Pham S; Department of Computer Science and Engineering, University of California San Diego, La Jolla, California 92093, USA.
  • Wang Y; Bioturing Incorporated, San Diego, California 92121, USA.
  • Lei M; Universal Sequencing Technology Corporation, Canton, Massachusetts 02021, USA.
Genome Res ; 30(6): 898-909, 2020 06.
Article en En | MEDLINE | ID: mdl-32540955
Long-range sequencing information is required for haplotype phasing, de novo assembly, and structural variation detection. Current long-read sequencing technologies can provide valuable long-range information but at a high cost with low accuracy and high DNA input requirements. We have developed a single-tube Transposase Enzyme Linked Long-read Sequencing (TELL-seq) technology, which enables a low-cost, high-accuracy, and high-throughput short-read second-generation sequencer to generate over 100 kb of long-range sequencing information with as little as 0.1 ng input material. In a PCR tube, millions of clonally barcoded beads are used to uniquely barcode long DNA molecules in an open bulk reaction without dilution and compartmentation. The barcoded linked-reads are used to successfully assemble genomes ranging from microbes to human. These linked-reads also generate megabase-long phased blocks and provide a cost-effective tool for detecting structural variants in a genome, which are important to identify compound heterozygosity in recessive Mendelian diseases and discover genetic drivers and diagnostic biomarkers in cancers.
Asunto(s)

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Biblioteca de Genes / Análisis de Secuencia de ADN / Secuenciación de Nucleótidos de Alto Rendimiento Tipo de estudio: Health_economic_evaluation / Prognostic_studies Límite: Humans Idioma: En Revista: Genome Res Asunto de la revista: BIOLOGIA MOLECULAR / GENETICA Año: 2020 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Estados Unidos

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Biblioteca de Genes / Análisis de Secuencia de ADN / Secuenciación de Nucleótidos de Alto Rendimiento Tipo de estudio: Health_economic_evaluation / Prognostic_studies Límite: Humans Idioma: En Revista: Genome Res Asunto de la revista: BIOLOGIA MOLECULAR / GENETICA Año: 2020 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Estados Unidos