Tag Archives: PacBio

CFTR haplotype phasing using long-read genome sequencing from ultra-low input DNA

January 2025 Authors: Neeru Gandotra, Antariksh Tyagi, Irina Tikhonova, Caroline Storer, Curt Scharfe Abstract: “Purpose: Newborn screening (NBS) identifies rare diseases that result from the recessive inheritance of pathogenic variants in both copies of a gene. Long-read genome sequencing (LRS) … more »

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“Range+T “ for Tight Sizing of HMW Libraries

Range+T Size Selection Note: Range + T is available for all PippinHT instruments. However, only BluePippins with serial numbers 2700 and above will run the method. Sage’s DNA size selection technology has been used to help improve PacBio sequencing, particularly … more »

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Utility of long-read sequencing for All of Us

January 2023 Authors: M. Mahmoud, Y. Huang, K. Garimella, P. A. Audano, W. Wan, N. Prasad, R. E. Handsaker, S. Hall, A. Pionzio, M. C. Schatz, M. E. Talkowski, E. E. Eichler, S. E. Levy, F. J. Sedlazeck Abstract: “The … more »

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High-quality Arabidopsis thaliana Genome Assembly with Nanopore and HiFi Long Reads

September 2021 Authors: Bo Wang, Xiaofei Yang, Yanyan Jia, Yu Xu, Peng Jia, Ningxin Dang, Songbo Wang, Tun Xu, Xixi Zhao, Shenghan Gao, Quanbin Dong, Kai Ye Info: The authors report on a high quality genome assembly of the model … more »

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High-molecular weight DNA extraction, clean-up and size selection for long-read sequencing

July 2021 Authors: Ashley Jones ,Cynthia Torkel,David Stanley,Jamila Nasim,Justin Borevitz,Benjamin Schwessinger Info: The authors provide a protocol for preparing high molecular weight DNA sequencing libraries with a particular focus on difficult plant and fungal tissues, and also can be used … more »

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Comparison of long-read sequencing technologies in interrogating bacteria and fly genomes

June 2021 Authors: Eric S Tvedte, Mark Gasser, Benjamin C Sparklin, Jane Michalski, Carl E Hjelmen, J Spencer Johnston, Xuechu Zhao, Robin Bromley, Luke J Tallon, Lisa Sadzewicz, David A Rasko, Julie C Dunning Hotopp Info: This side-by-side comparison of … more »

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CRISPR–Cas9/long-read sequencing approach to identify cryptic mutations in BRCA1 and other tumour suppressor genes

October 2020 Authors: Tom Walsh, Silvia Casadei, Katherine M Munson, Mary Eng, Jessica B Mandell, Suleyman Gulsuner, Mary-Claire King Info: In this short report, researchers studying young-onset breast cancer used the SageHLS and HLS-CATCH method to purify high molecular weight … more »

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A long-read RNA-seq approach to identify novel transcripts of very large genes

July 2020 Authors: Prech Uapinyoying, Jeremy Goecks, Susan M. Knoblach, Karuna Panchapakesan, Carsten G. Bonnemann, Terence A. Partridge, Jyoti K. Jaiswal, and Eric P. Hoffman Info: Scientists researching muscular disorders present a method for studying gene expression of large RNA … more »

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Fully phased sequence of a diploid human genome determined de novo from the DNA of a single individual

July 2020 Authors: Ilya Soifer , Nicole L. Fong, Nelda Yi, Andrea T. Ireland, Irene Lam, Matthew Sooknah, Jonathan S. Paw, Paul Peluso, Gregory T. Concepcion, David Rank, Alex R. Hastie, 5 Vladimir Jojic, J. Graham Ruby, David Botstein, Margaret … more »

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Highly accurate long-read HiFi sequencing data for five complex genomes

May 2020 Authors: Ting Hon, Kristin Mars, Greg Young, Yu-Chih Tsai, Joseph W. Karalius, Jane M. Landolin, Nicholas Maurer, David Kudrna, Michael A. Hardigan, Cynthia C. Steiner, Steven J. Knapp, Doreen Ware, Beth Shapiro, Paul Peluso, David R. Rank Info: … more »

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