Category Archives: Citation

Resolving the 22q11.2 deletion using CTLR-Seq reveals chromosomal rearrangement mechanisms and individual variance in breakpoints

Posted on July 21, 2024 by Alex

July 2024 Authors: Bo Zhou, Carolin Purmann, Hanmin Guo, GiWon Shin, Yiling Huang, Reenal Pattni, Qingxi Meng, Stephanie U. Greer, Tanmoy Roychowdhuryg, Raegan N. Wood, Marcus Ho, Heinrich zu Dohna, Alexej Abyzov, Joachim F. Hallmayer, Wing H. Wong, Hanlee P. … more »

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CTLR-Seq Protocol

Posted on July 20, 2024 by Alex

July 2024 Authors: Bo Zhou, GiWon Shin,Yiling Huang, Raegan N. Wood, Hanlee P. Ji, Alexander E. Urban Abstract: “We developed a generally applicable method CRISPR/Cas9-targeted long read sequencing (CTLR-Seq) to resolve, haplotype-specifically, and at base-pair resolution, large, complex, and highly … more »

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Processing frozen archival human DNA samples for large-scale SQK-LSK114 Oxford Nanopore long-read DNA sequencing SOP v1

Posted on June 19, 2024 by Alex

June 2024 Authors: Alicia Wenghöfer, Kimberly Paquette, Laksh Malik, Breeana Baker, Cedric Kouam, Kimberley J Billingsley Abstract: “As part of the GP2 monogenic network we will generate long-read sequencing data to better understand the genetic architecture of Parkinson’s disease. To … more »

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Identifying the best PCR enzyme for library amplification in NGS

Posted on April 26, 2024 by Alex

April 2024 Authors: Michael A. Quail, Craig Corton, James Uphill, Jacqueline Keane and Yong Gu Abstract: “PCR amplification is a necessary step in many next-generation sequencing (NGS) library preparation methods. Whilst many PCR enzymes are developed to amplify single targets … more »

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Whole genome sequencing identifies associations for nonsyndromic sagittal craniosynostosis with the intergenic region of BMP2 and noncoding RNA gene LINC01428

Posted on April 26, 2024 by Alex

April 2024 Authors: Anthony M. Musolf, Cristina M. Justice, Zeynep Erdogan-Yildirim, Seppe Goovaerts, Araceli Cuellar, John R. Shaffer, Mary L. Marazita, Peter Claes, Seth M. Weinberg, Jae Li, Craig Senders, Marike Zwienenberg, Emil Simeonov, Radka Kaneva, Tony Roscioli, Lorena Di … more »

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Mature microRNA-binding protein QKI promotes microRNA-mediated gene silencing

Posted on February 26, 2024 by Alex

February 2024 Authors: Kyung-Won Min, Myung Hyun Jo, Minseok Song, Ji Won Lee, Min Ji Shim, Kyungmin Kim, Hyun Bong Park,Shinwon Ha, Hyejin Mun, Ahsan Polash, Markus Hafner, Jung-Hyun Cho, Dongsan Kim, Ji-Hoon Jeong, Seungbeom Ko, Sungchul Hohng, Sung-Ung Kang … more »

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In vitro size-selection of short circulating tumor DNA fragments from late-stage lung cancer patients enhance the detection of mutations and aneuploidies

Posted on January 26, 2024 by Alex

January 2024 Authors: Christoffer Trier Maansson, Louise Skov Thomsen, Laura Stokkebro, Julie Gabe Dissing, Maiken Parm Ulhoi, Anders Lade Nielsen, Peter Meldgaard, Boe Sandahl Sorensen Abstract: “Introduction Recent studies have demonstrated differences between the fragment length profiles of cell-free DNA … more »

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The haplotype-resolved T2T carnation (Dianthus caryophyllus) genome reveal the correlation between genome architecture and gene expression

Posted on December 19, 2023 by Alex

November 2023 Authors: Lan Lan, Luhong Leng, Weichao, Yonglin Ren, Wayne Reeve, Xiaopeng Fu, Zhiqiang Wu, Xiaoni Zhang Abstract: “Carnation (Dianthus caryophyllus) is one of the most valuable commercial 45 flowers, due to its richness of colour and form, and … more »

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The draft genome sequence of the Japanese rhinoceros beetle Trypoxylus dichotomus septentrionalis towards an understanding of horn formation

Posted on June 6, 2023 by Alex

May 2023 Authors: Shinichi Morita, Tomoko F. Shibata, Tomoaki Nishiyama, Yuuki Kobayashi, Katsushi Yamaguchi, Kouhei Toga, Takahiro Ohde, Hiroki Gotoh, Takaaki Kojima, Jesse N. Weber, Marco Salvemini, Takahiro Bino, Mutsuki Mase, Moe Nakata, Tomoko Mori, Shogo Mori, Richard Cornette, Kazuki … more »

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Targeted Phasing of 2-200 Kilobase DNA Fragments with a Short-Read Sequencer and a Single-Tube Linked-Read Library Method

Posted on March 6, 2023 by Alex

March 2023 Authors: Veronika Mikhaylova, Madison Rzepka, Tetsuya Kawamura1, Yu Xia, Peter L. Chang, Shiguo Zhou, Long Pham, Naisarg Modi, Likun Yao, Adrian Perez-Agustin, Sara Pagans, T. Christian Boles , Ming Lei, Yong Wang, Ivan Garcia-Bassets, and Zhoutao Chen Abstract: … more »

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