RT Journal
A1 Chen, Zhoutao
A1 Pham, Long
A1 Wu, Tsai-Chin
A1 Mo, Guoya
A1 Xia, Yu
A1 Chang, Peter L.
A1 Porter, Devin
A1 Phan, Tan
A1 Che, Huu
A1 Tran, Hao
A1 Bansal, Vikas
A1 Shaffer, Justin
A1 Belda-Ferre, Pedro
A1 Humphrey, Greg
A1 Knight, Rob
A1 Pevzner, Pavel
A1 Pham, Son
A1 Wang, Yong
A1 Lei, Ming
T1 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
JF Genome Research 
JO Genome Research 
YR 2020 
FD June 01 
VO 30 
IS 6 
SP 898 
OP 909 
DO 10.1101/gr.260380.119 
UL http://genome.cshlp.org/content/30/6/898.abstract 
AB 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.