Tag Archives: SageHLS

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

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 »

Posted in Citation | Tagged , , , , , | Comments Off on The haplotype-resolved T2T carnation (Dianthus caryophyllus) genome reveal the correlation between genome architecture and gene expression

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

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 »

Posted in Citation | Tagged , , , | Comments Off on The draft genome sequence of the Japanese rhinoceros beetle Trypoxylus dichotomus septentrionalis towards an understanding of horn formation

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

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 »

Posted in Citation | Tagged , , | Comments Off on Targeted Phasing of 2-200 Kilobase DNA Fragments with a Short-Read Sequencer and a Single-Tube Linked-Read Library Method

AGBT23 Roundup!

Well, we have another fabulous AGBT behind us that we were happy to attend.   Our take home messages? A. Spatial transcriptomics is the exciting new frontier.  B.  True human WGS  has been accomplished and is moving into population-scale work. And … more »

Posted in Blog | Tagged , , , | Comments Off on AGBT23 Roundup!

Large Cancer Pedigree Involving Multiple Cancer Genes including Likely Digenic MSH2 and MSH6 Lynch Syndrome (LS) and an Instance of Recombinational Rescue from LS

January 2023 Authors: Ingrid P. Vogelaar, Stephanie Greer, Fan Wang, GiWon Shin, Billy Lau, Yajing H, Sigurdis Haraldsdottir, Rocio Alvarez, Dennis Hazelett, Peter Nguyen, Francesca P. Aguirre, Maha Guindi, Andrew Hendifar, Jessica Balcom, Anna Leininger, Beth Fairbank, Hanlee Ji, Megan … more »

Posted in Citation | Tagged , , , , | Comments Off on Large Cancer Pedigree Involving Multiple Cancer Genes including Likely Digenic MSH2 and MSH6 Lynch Syndrome (LS) and an Instance of Recombinational Rescue from LS

Complete and haplotype-specific sequence assembly of segmental duplication-mediated genome rearrangements using targeted CRISPR-targeted ultra-long read sequencing (CTLR-Seq)

October 2020 Authors: Bo Zhou, GiWon Shin, Stephanie U. Greer, Lisanne Vervoort, Yiling Huang, Reenal Pattni, Marcus Ho, Wing H. Wong, Joris R. Vermeesch, Hanlee P. Ji, Alexander E. Urban Info: In this preprint the authors report on a method, … more »

Posted in Citation | Tagged , , , | Comments Off on Complete and haplotype-specific sequence assembly of segmental duplication-mediated genome rearrangements using targeted CRISPR-targeted ultra-long read sequencing (CTLR-Seq)

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 »

Posted in Citation | Tagged , , , | Comments Off on CRISPR–Cas9/long-read sequencing approach to identify cryptic mutations in BRCA1 and other tumour suppressor genes

HLS-CATCH and TELL-Seq™: a new route to Targeted Long-Fragment Linked-Read Sequencing

At the recent 2020 AGBT meeting Universal Sequencing gave a data-filled poster on their new Transposase Enzyme Linked Long-read Sequencing kit and workflow, known as TELL-Seq™. The technology features a unique combination of bead-linked and soluble transposases that can generate … more »

Posted in Blog | Tagged , , , | Comments Off on HLS-CATCH and TELL-Seq™: a new route to Targeted Long-Fragment Linked-Read Sequencing

SageHLS Helps Unravel the Neuropsychiatric 22q11.2 Deletion Region1q11

An international collaboration led by the Stanford labs of Alexander Urban and Hanlee Ji, used the SageHLS system to map a Mb-sized deletion in a complex region of the human genome, 22q11.2, that is associated with a variety of neurodevelopmental … more »

Posted in Blog | Tagged , | Comments Off on SageHLS Helps Unravel the Neuropsychiatric 22q11.2 Deletion Region1q11

Podcast: HMW DNA, Personalized Cancer Vaccines, and Structural Variation

There’s a great new podcast interview with Stanford clinical geneticist and oncologist Hanlee Ji about targeting extremely large stretches of DNA by combining CRISPR methods, automated DNA purification with the SageHLS instrument, and 10x Genomics technology. The approach works with … more »

Posted in Blog | Tagged , , , | Comments Off on Podcast: HMW DNA, Personalized Cancer Vaccines, and Structural Variation