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Recent Posts
- Cost-effective and Flexible Preimplantation Genetic Testing (PGT) Using Adaptive Sampling-based Targeted Nanopore Sequencing (ASTN-seq)
- CFTR haplotype phasing using long-read genome sequencing from ultra-low input DNA
- Integrated analysis of miRNAs and mRNAs in thousands of single cells
- Leveraging the power of long reads for targeted sequencing
- Resolving the 22q11.2 deletion using CTLR-Seq reveals chromosomal rearrangement mechanisms and individual variance in breakpoints
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Author Archives: Alex
Cost-effective and Flexible Preimplantation Genetic Testing (PGT) Using Adaptive Sampling-based Targeted Nanopore Sequencing (ASTN-seq)
January 2025 Authors: Zhiqiang Zhang, Shujing He, Taoli Ding, Xiaoyan Liang, Cong Fang, Haitao Zeng, Linan Xu, Xiaolan Li, Lei Jia, Shihui Zhang, Wenlong Su, Peng Sun, Ji Yang, Jun Ren, Sijia Lu, Zi Ren Abstract: “Genetic diseases encompass a … more »
Posted in Citation
Tagged Adaptive Sequencing, BluePippin, ONT, oxford nanopore
Comments Off on Cost-effective and Flexible Preimplantation Genetic Testing (PGT) Using Adaptive Sampling-based Targeted Nanopore Sequencing (ASTN-seq)
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 »
Integrated analysis of miRNAs and mRNAs in thousands of single cells
January 2025 Authors: Jia Li, Jing Tian, Tao Cai Abstract: “The simultaneous sequencing of multiple types of biomolecules can facilitate understanding various forms of regulation occurring in cells. Cosequencing of miRNA and mRNA at single-cell resolution is challenging, and to … more »
Posted in Citation
Tagged miRNA, mRNA, Pippin Prep, single cell sequencing
Comments Off on Integrated analysis of miRNAs and mRNAs in thousands of single cells
Leveraging the power of long reads for targeted sequencing
December 2024 Authors: Shruti V. Iyer, Sara Goodwin, and William Richard McCombie Abstract: “Long-read sequencing technologies have improved the contiguity and, as a result, the quality of genome assemblies by generating reads long enough to span and resolve complex or … more »
Posted in Citation
Tagged CATCH, HLS-CATCH, long reads, long-read sequencing, Target Enrichment
Comments Off on Leveraging the power of long reads for targeted sequencing
Resolving the 22q11.2 deletion using CTLR-Seq reveals chromosomal rearrangement mechanisms and individual variance in breakpoints
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 »
CTLR-Seq Protocol
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 »
Processing frozen archival human DNA samples for large-scale SQK-LSK114 Oxford Nanopore long-read DNA sequencing SOP v1
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 »
Posted in Citation
Tagged BluePippin, ONT, oxford nanopore
Comments Off on Processing frozen archival human DNA samples for large-scale SQK-LSK114 Oxford Nanopore long-read DNA sequencing SOP v1
Identifying the best PCR enzyme for library amplification in NGS
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 »
Posted in Citation
Tagged BluePippin, PCR, SageELF
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Whole genome sequencing identifies associations for nonsyndromic sagittal craniosynostosis with the intergenic region of BMP2 and noncoding RNA gene LINC01428
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 »
Posted in Citation
Tagged oxford nanopore, PippinHT, Promethion
Comments Off on Whole genome sequencing identifies associations for nonsyndromic sagittal craniosynostosis with the intergenic region of BMP2 and noncoding RNA gene LINC01428
Mature microRNA-binding protein QKI promotes microRNA-mediated gene silencing
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 »
Posted in Citation
Tagged miRNA isolation, PippinHT
Comments Off on Mature microRNA-binding protein QKI promotes microRNA-mediated gene silencing