Author Archives: Alex

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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AGBT23 Roundup!

Posted on February 22, 2023 by Alex

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 »

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Innovations in double digest restriction-site associated DNA sequencing (ddRAD-Seq) method for more efficient SNP identification

Posted on February 1, 2023 by Alex

February 2023 Authors: Zenaida V.Magbanua, Chuan-YuHsu, OlgaPechanova, Mark Arick II, Corrinne E.Grover, Daniel G.Peterson Abstract: “We present an improved ddRAD-Seq protocol for identifying single nucleotide polymorphisms (SNPs). It utilizes selected restriction enzyme digestion fragments, quick acting ligases that are neutral … more »

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Utility of long-read sequencing for All of Us

Posted on February 1, 2023 by Alex

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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Significance of HLA in the development of Graves’ orbitopathy

Posted on January 20, 2023 by Alex

January 2023 Authors: Magdalena Stasiak, Katarzyna Zawadzka-Starczewska, Bogusław Tymoniuk, Bartłomiej Stasiak, Andrzej Lewiński Abstract: “Graves’ disease (GD), similarly to most autoimmune disease, is triggered by environmental factors in genetically predisposed individuals. Particular HLA alleles increase or decrease GD risk. No … more »

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Proteomic analysis of sialoliths from calcified, lipid and mixed groups as a source of potential biomarkers of deposit formation in the salivary glands

Posted on January 19, 2023 by Alex

January 2023 Authors: Natalia Musiał, Aleksandra Bogucka, Dmitry Tretiakow, Andrzej Skorek, Jacek Ryl Gdańsk, Paulina Czaplewska Abstract: “Salivary stones, also known as sialoliths, are formed in a pathological situation in the salivary glands. So far, neither the mechanism of their … more »

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

Posted on January 5, 2023 by Alex

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 »

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Optimising ddRAD sequencing for population genomic studies with ddgRADer

Posted on November 14, 2022 by Alex

October 2022 Authors: Aparna Lajmi, Felix Glinka, Eyal Privman Info: In this preprint, the authors describe an online webtool that they have developed for designing ddRAD-seq experiments. This webtool assists in the recommendation of restriction enzyme pairs and size-selection criteria. … more »

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Heat selection enables highly scalable methylome profiling in cell-free DNA for noninvasive monitoring of cancer patients

Posted on September 15, 2022 by Alex

September 2022 Authors: Elsie Cheruba, Ramya Viswanathan, Pui-Mun Wong, Howard John Womersley, Shuting Han, Brenda Tay, Yiting Lau, Anna Gan, Polly S. Y. Poon, Anders Skanderup, Sarah B. Ng, Aik Yong Chok, Dawn Qingqing Chong, Iain Beehuat Tan, Lih Feng … more »

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