Article
Medical Laboratory Technology
Zeyan Zhong, Guoxing Zhong, Zhiyang Guan, Dina Chen, Zhiyong Wu, Kunxiang Yang, Dan Chen, Yinyin Liu, Ruofan Xu, Jianhong Chen
Summary: Thalassemia, the most frequent recessive Mendelian inherited monogenic disease worldwide, can be detected more accurately using long-read single-molecule real-time (SMRT) sequencing, which may improve the accuracy of genetic counseling and prenatal diagnosis.
CLINICAL BIOCHEMISTRY
(2022)
Article
Genetics & Heredity
Fan Jiang, Ai-Ping Mao, Yin-Yin Liu, Feng-Zhi Liu, Yan-Lin Li, Jian Li, Jian-Ying Zhou, Xue-Wei Tang, Ai-Ping Ju, Fa-Tao Li, Jun-Hui Wan, Lian-Dong Zuo, Dong-Zhi Li
Summary: In this study, we utilized single-molecule real-time (SMRT) sequencing to uncover rare thalassemia mutations in nine patients and their family members. The results demonstrate the importance of SMRT sequencing in thalassemia screening and diagnosis, particularly for detecting rare mutations.
Article
Pediatrics
Tian-Jian Chen, Renfang Song, Adam Janssen, Ihor V. Yosypiv
Summary: Cytogenomic aberrations are common in children with MCDK, with up to 30% possessing these abnormalities. These aberrations are inherited from parents, indicating a hereditary contribution to MCDK. aCGH is a valuable tool for unraveling the pathogenic mechanisms of MCDK.
PEDIATRIC RESEARCH
(2022)
Article
Microbiology
Nanjing Ji, Xueyao Yin, Yujiao Chen, Yifan Chen, Mingyang Xu, Jinwang Huang, Yuefeng Cai, Xin Shen
Summary: In this study, a full-length transcriptome of the harmful algal species Heterosigma akashiwo was obtained using single-molecule real-time sequencing. A total of 45.44 Gb of subread bases were generated, resulting in 16,668 unigenes after data processing. Among the annotated unigenes, phosphorus and nitrogen metabolism genes were the most detected. Additionally, putative transcription factors, long non-coding RNAs, and simple sequence repeats were also predicted. This study provides a valuable reference transcriptome for understanding the molecular mechanism of H. akashiwo blooms.
Article
Endocrinology & Metabolism
Samantha E. Day, Yunhua L. Muller, Cigdem Koroglu, Sayuko Kobes, Kim Wiedrich, Darin Mahkee, Hye In Kim, Cris Van Hout, Nehal Gosalia, Bin Ye, Alan R. Shuldiner, William C. Knowler, Robert L. Hanson, Clifton Bogardus, Leslie J. Baier
Summary: This study reports potentially functional variants in BBS genes in American Indians, but the functional evidence supporting a causal role for BBS9 in obesity is inconclusive.
Article
Biotechnology & Applied Microbiology
Takeshi Mizuguchi, Nobuhiko Okamoto, Keiko Yanagihara, Satoko Miyatake, Yuri Uchiyama, Naomi Tsuchida, Kohei Hamanaka, Atsushi Fujita, Noriko Miyake, Naomichi Matsumoto
Summary: Through the application of high-fidelity long-read genome sequencing (HiFi LR-GS), a 12-kb copy-neutral inversion disrupting two genes in monozygotic twin girls with intellectual disability was identified, highlighting the importance of previously unrecognized submicroscopic copy-neutral inversions in monogenic disorders.
Article
Veterinary Sciences
Liheng Zhang, Xianghui Li, Xinghui Song, Chuanzhou Bian, Xiangtao Kang, Junqiang Zhao, Hongxing Qiao, Yanzhang Gong
Summary: Endophytic fungi are microorganisms that exist within healthy plant organs and have a significant influence on the production of metabolic products in plants. Fermentation with probiotic cultures can affect the diversity and abundance of endophytic fungi in Astragalus membranaceus. These findings provide a foundation for exploring the potential use of endophytic fungi from A. membranaceus as a source of functional compounds.
FRONTIERS IN VETERINARY SCIENCE
(2022)
Article
Immunology
Katherine J. L. Jackson, Justin T. Kos, William Lees, William S. Gibson, Melissa Laird Smith, Ayelet Peres, Gur Yaari, Martin Corcoran, Christian E. Busse, Mats Ohlin, Corey T. Watson, Andrew M. Collins
Summary: The poorly characterized immunoglobulin genes in inbred mouse strains commonly used in models of antibody-mediated human diseases could compromise data analysis. This study used long-read SMRT sequencing to amplify VDJ-C sequences from BALB/c mice and identified strain variations in specific immunoglobulin genes. By computationally retrieving IGHV haplotypes, a set of expressed BALB/c IGHV germline gene sequences was established. The study also assessed the suitability of assemblies from the Mouse Genome Project for the determination of IGH loci genes.
FRONTIERS IN IMMUNOLOGY
(2022)
Article
Biotechnology & Applied Microbiology
Cheng-Yan Mou, Qiang Li, Zhi-Peng Huang, Hong-Yu Ke, Han Zhao, Zhong-Meng Zhao, Yuan-Liang Duan, Hua-Dong Li, Yu Xiao, Zhou-Ming Qian, Jun Du, Jian Zhou, Lu Zhang
Summary: This study generated a full-length transcriptome of oriental river prawn muscle using the PacBio Sequel platform, and identified 6,599 error-corrected isoforms. Transcriptome structural analysis revealed thousands of alternative splicing and polyadenylation events. This study provides valuable information for understanding the genomic structure and improving the genome annotation of oriental river prawn.
Article
Biochemistry & Molecular Biology
Jinfeng Chen, Jingfei Cheng, Xiufei Chen, Masato Inoue, Yibin Liu, Chun-Xiao Song
Summary: Long-read sequencing provides valuable information on difficult-to-map genomic regions and can improve genome assembly when combined with short-read sequencing. This study presents a method called whole-genome long-read TAPS (wglrTAPS), which combines TET-assisted pyridine borane sequencing with PacBio single-molecule real-time sequencing. Application of wglrTAPS to mouse embryonic stem cells showed the ability to detect previously uncovered CpG sites in problematic genomic regions. This method enhances the use of third-generation sequencing technologies for DNA epigenetics.
NUCLEIC ACIDS RESEARCH
(2022)
Article
Genetics & Heredity
Maria Luce Genovesi, Barbara Torres, Marina Goldoni, Eliana Salvo, Claudia Cesario, Massimo Majolo, Tommaso Mazza, Carmelo Piscopo, Laura Bernardini
Summary: Fibrillin proteins are important for the structure of connective tissues, and mutations in FBN1 and FBN2 can cause connective tissue disorders. This study reports on a patient with developmental delay, cognitive impairment, obesity, dental and genital anomalies, and skeletal anomalies, who carries a novel homozygous variant in the FBN3 gene, suggesting that FBN3 may be involved in a Bardet-Biedl syndrome-like syndrome.
FRONTIERS IN GENETICS
(2022)
Article
Biotechnology & Applied Microbiology
Yuan Zhang, Fangrui Lou, Jianwei Chen, Zhiqiang Han, Tianyan Yang, Tianxiang Gao, Na Song
Summary: This study utilized PacBio isoform sequencing to generate the full-length transcriptome data of S. sinica, revealing a large number of non-redundant transcripts and novel isoforms. This comprehensive transcriptome analysis provides valuable insights for understanding gene function and regulatory mechanisms in S. sinica.
MARINE BIOTECHNOLOGY
(2022)
Article
Biotechnology & Applied Microbiology
Wei Wang, Lei Wang, Ling Wang, Meilian Tan, Collins O. Ogutu, Ziyan Yin, Jian Zhou, Jiaomei Wang, Lijun Wang, Xingchu Yan
Summary: This study investigated the transcriptional response of oil flax to drought stress, revealing that the drought-tolerant variety Z141 upregulated more functional pathways related to plant drought tolerance compared to the sensitive variety NY-17. Proline was identified as potentially playing a key role in linseed drought tolerance.
Article
Biochemistry & Molecular Biology
Adella Karam, Clarisse Delvallee, Alejandro Estrada-Cuzcano, Veronique Geoffroy, Jean-Baptiste Lamouche, Anne-Sophie Leuvrey, Elsa Nourisson, Julien Tarabeux, Corinne Stoetzel, Sophie Scheidecker, Louise Frances Porter, Emmanuelle Genin, Richard Redon, Florian Sandron, Anne Boland, Jean-Francois Deleuze, Nicolas Le May, Helene Dollfus, Jean Muller
Summary: Bardet-Biedl syndrome (BBS) is an autosomal recessive ciliopathy with genetic heterogeneity. This study focuses on a European BBS5 patient and highlights the importance of whole-genome sequencing (WGS) for accurate variant detection, especially for structural variants. The study confirms the impact of BBS5 protein on patient's cells and ciliary function, emphasizing the need for functional tests to assess variant pathogenicity.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Plant Sciences
Hui Jiang, Ying Li, Mingbao Luan, Siqi Huang, Lining Zhao, Guang Yang, Gen Pan
Summary: In this study, the authors used single-molecule real-time sequencing to investigate cannabis female and induced male flowers. They identified 48 long non-coding RNAs and 8202 transcripts annotated as transcription factors. They also discovered the gene CER1 which may play a role in cannabis male flower development and validated two alternative splicing events.
Letter
Genetics & Heredity
W. Qiao, J. Wang, B. S. Pullman, R. Chen, Y. Yang, S. A. Scott
PHARMACOGENOMICS JOURNAL
(2017)
Article
Pharmacology & Pharmacy
Philip E. Empey, James M. Stevenson, Sony Tuteja, Kristin W. Weitzel, Dominick J. Angiolillo, Amber L. Beitelshees, James C. Coons, Julio D. Duarte, Francesco Franchi, Linda J. B. Jeng, Julie A. Johnson, Rolf P. Kreutz, Nita A. Limdi, Kristin A. Maloney, Aniwaa Owusu Obeng, Josh F. Peterson, Natasha Petry, Victoria M. Pratt, Fabiana Rollini, Stuart A. Scott, Todd C. Skaar, Mark R. Vesely, George A. Stouffer, Russell A. Wilke, Larisa H. Cavallari, Craig R. Lee
CLINICAL PHARMACOLOGY & THERAPEUTICS
(2018)
Article
Pathology
Victoria M. Pratt, Andria L. Del Tredici, Houda Hachad, Yuan Ji, Lisa V. Kalman, Stuart A. Scott, Karen E. Weck
JOURNAL OF MOLECULAR DIAGNOSTICS
(2018)
Article
Genetics & Heredity
Carolina Roselli, Mark D. Chaffin, Lu-Chen Weng, Stefanie Aeschbacher, Gustav Ahlberg, Christine M. Albert, Peter Almgren, Alvaro Alonso, Christopher D. Anderson, Krishna G. Aragam, Dan E. Arking, John Barnard, Traci M. Bartz, Emelia J. Benjamin, Nathan A. Bihlmeyer, Joshua C. Bis, Heather L. Bloom, Eric Boerwinkle, Erwin B. Bottinger, Jennifer A. Brody, Hugh Calkins, Archie Campbell, Thomas P. Cappola, John Carlquist, Daniel I. Chasman, Lin Y. Chen, Yii-Der Ida Chen, Eue-Keun Choi, Seung Hoan Choi, Ingrid E. Christophersen, Mina K. Chung, John W. Cole, David Conen, James Cook, Harry J. Crijns, Michael J. Cutler, Scott M. Damrauer, Brian R. Daniels, Dawood Darbar, Graciela Delgado, Joshua C. Denny, Martin Dichgans, Marcus Doerr, Elton A. Dudink, Samuel C. Dudley, Nada Esa, Tonu Esko, Markku Eskola, Diane Fatkin, Stephan B. Felix, Ian Ford, Oscar H. Franco, Bastiaan Geelhoed, Raji P. Grewal, Vilmundur Gudnason, Xiuqing Guo, Namrata Gupta, Stefan Gustafsson, Rebecca Gutmann, Anders Hamsten, Tamara B. Harris, Caroline Hayward, Susan R. Heckbert, Jussi Hernesniemi, Lynne J. Hocking, Albert Hofman, Andrea R. V. R. Horimoto, Jie Huang, Paul L. Huang, Jennifer Huffman, Erik Ingelsson, Esra Gucuk Ipek, Kaoru Ito, Jordi Jimenez-Conde, Renee Johnson, J. Wouter Jukema, Stefan Kaeaeb, Mika Kahonen, Yoichiro Kamatani, John P. Kane, Adnan Kastrati, Sekar Kathiresan, Petra Katschnig-Winter, Maryam Kavousi, Thorsten Kessler, Bas L. Kietselaer, Paulus Kirchhof, Marcus E. Kleber, Stacey Knight, Jose E. Krieger, Michiaki Kubo, Lenore J. Launer, Jari Laurikka, Terho Lehtimaki, Kirsten Leineweber, Rozenn N. Lemaitre, Man Li, Hong Euy Lim, Henry J. Lin, Honghuang Lin, Lars Lind, Cecilia M. Lindgren, Marja-Liisa Lokki, Barry London, Ruth J. F. Loos, Siew-Kee Low, Yingchang Lu, Leo-Pekka Lyytikainen, Peter W. Macfarlane, Patrik K. Magnusson, Anubha Mahajan, Rainer Malik, Alfredo J. Mansur, Gregory M. Marcus, Lauren Margolin, Kenneth B. Margulies, Winfried Maerz, David D. McManus, Olle Melander, Sanghamitra Mohanty, Jay A. Montgomery, Michael P. Morley, Andrew P. Morris, Martina Mueller-Nurasyid, Andrea Natale, Saman Nazarian, Benjamin Neumann, Christopher Newton-Cheh, Maartje N. Niemeijer, Kjell Nikus, Peter Nilsson, Raymond Noordam, Heidi Oellers, Morten S. Olesen, Marju Orho-Melander, Sandosh Padmanabhan, Hui-Nam Pak, Guillaume Pare, Nancy L. Pedersen, Joanna Pera, Alexandre Pereira, David Porteous, Bruce M. Psaty, Sara L. Pulit, Clive R. Pullinger, Daniel J. Rader, Lena Refsgaard, Marta Ribases, Paul M. Ridker, Michiel Rienstra, Lorenz Risch, Dan M. Roden, Jonathan Rosand, Michael A. Rosenberg, Natalia Rost, Jerome I. Rotter, Samir Saba, Roopinder K. Sandhu, Renate B. Schnabel, Katharina Schramm, Heribert Schunkert, Claudia Schurman, Stuart A. Scott, Ilkka Seppala, Christian Shaffer, Svati Shah, Alaa A. Shalaby, Jaemin Shim, M. Benjamin Shoemaker, Joylene E. Siland, Juha Sinisalo, Moritz F. Sinner, Agnieszka Slowik, Albert V. Smith, Blair H. Smith, J. Gustav Smith, Jonathan D. Smith, Nicholas L. Smith, Elsayed Z. Soliman, Nona Sotoodehnia, Bruno H. Stricker, Albert Sun, Han Sun, Jesper H. Svendsen, Toshihiro Tanaka, Kahraman Tanriverdi, Kent D. Taylor, Maris Teder-Laving, Alexander Teumer, Sebastien Theriault, Stella Trompet, Nathan R. Tucker, Arnljot Tveit, Andre G. Uitterlinden, Pim Van Der Harst, Isabelle C. Van Gelder, David R. Van Wagoner, Niek Verweij, Efthymia Vlachopoulou, Uwe Voelker, Biqi Wang, Peter E. Weeke, Bob Weijs, Raul Weiss, Stefan Weiss, Quinn S. Wells, Kerri L. Wiggins, Jorge A. Wong, Daniel Woo, Bradford B. Worrall, Pil-Sung Yang, Jie Yao, Zachary T. Yoneda, Tanja Zeller, Lingyao Zeng, Steven A. Lubitz, Kathryn L. Lunetta, Patrick T. Ellinor
Article
Pharmacology & Pharmacy
Raymon Vijzelaar, Mariana R. Botton, Lisette Stolk, Suparna Martis, Robert J. Desnick, Stuart A. Scott
Review
Pharmacology & Pharmacy
Caroline F. Thorn, Michelle Whirl-Carrillo, Houda Hachad, Julie A. Johnson, Ellen M. McDonagh, Mark J. Ratain, Mary V. Relling, Stuart A. Scott, Russ B. Altman, Teri E. Klein
CLINICAL PHARMACOLOGY & THERAPEUTICS
(2019)
Article
Pharmacology & Pharmacy
Elisa Danese, Sara Raimondi, Martina Montagnana, Angela Tagetti, Taimour Langaee, Paola Borgiani, Cinzia Ciccacci, Antonio J. Carcas, Alberto M. Borobia, Hoi Y. Tong, Cristina Davila-Fajardo, Mariana Rodrigues Botton, Stephane Bourgeois, Panos Deloukas, Michael D. Caldwell, Jim K. Burmester, Richard L. Berg, Larisa H. Cavallari, Katarzyna Drozda, Min Huang, Li-Zi Zhao, Han-Jing Cen, Rocio Gonzalez-Conejero, Vanessa Roldan, Yusuke Nakamura, Taisei Mushiroda, Inna Y. Gong, Richard B. Kim, Keita Hirai, Kunihiko Itoh, Carlos Isaza, Leonardo Beltran, Enrique Jimenez-Varo, Marisa Canadas-Garre, Alice Giontella, Marianne K. Kringen, Kari Bente Foss Haug, Hye Sun Gwak, Kyung Eun Lee, Pietro Minuz, Ming Ta Michael Lee, Steven A. Lubitz, Stuart Scott, Cristina Mazzaccara, Lucia Sacchetti, Ece Genc, Mahmut Ozer, Anil Pathare, Rajagopal Krishnamoorthy, Andras Paldi, Virginie Siguret, Marie-Anne Loriot, Vijay Kumar Kutala, Guilherme Suarez-Kurtz, Jamila Perini, Josh C. Denny, Andrea H. Ramirez, Balraj Mittal, Saurabh Singh Rathore, Hersh Sagreiya, Russ Altman, Mohamed Hossam A. Shahin, Sherief Khalifa, Nita A. Limdi, Charles Rivers, Aditi Shendre, Chrisly Dillon, Ivet M. Suriapranata, Hong-Hao Zhou, Sheng-Lan Tan, Vacis Tatarunas, Vaiva Lesauskaite, Yumao Zhang, Anke H. Maitland-van der Zee, Talitha Verhoef, Anthonius de Boer, Monica Taljaard, Carlo Federico Zambon, Vittorio Pengo, Jieying Eunice Zhang, Munir Pirmohamed, Julie A. Johnson, Cristiano Fava
CLINICAL PHARMACOLOGY & THERAPEUTICS
(2019)
Article
Pharmacology & Pharmacy
Jun J. Yang, Michelle Whirl-Carrillo, Stuart A. Scott, Amy J. Turner, Matthias Schwab, Yoichi Tanaka, Guilherme Suarez-Kurtz, Elke Schaeffeler, Ted E. Klein, Neil A. Miller, Andrea Gaedigki
CLINICAL PHARMACOLOGY & THERAPEUTICS
(2019)
Article
Pharmacology & Pharmacy
Wanqiong Qiao, Suparna Martis, Geetu Mendiratta, Lisong Shi, Mariana R. Botton, Yao Yang, Andrea Gaedigk, Raymon Vijzelaar, Lisa Edelmann, Ruth Kornreich, Robert J. Desnick, Stuart A. Scott
Review
Genetics & Heredity
Wahab A. Khan, Ninette Cohen, Stuart A. Scott, Elaine M. Pereira
BMC MEDICAL GENOMICS
(2019)
Article
Genetics & Heredity
Larisa H. Cavallari, Sara L. Van Driest, Cynthia A. Prows, Jeffrey R. Bishop, Nita A. Limdi, Victoria M. Pratt, Laura B. Ramsey, D. Max Smith, Sony Tuteja, Benjamin Q. Duong, J. Kevin Hicks, James C. Lee, Aniwaa Owusu Obeng, Amber L. Beitelshees, Gillian C. Bell, Kathryn Blake, Daniel J. Crona, Lynn Dressler, Ryan A. Gregg, Lindsay J. Hines, Stuart A. Scott, Richard C. Shelton, Kristin Wiisanen Weitzel, Julie A. Johnson, Josh F. Peterson, Philip E. Empey, Todd C. Skaar
GENETICS IN MEDICINE
(2019)
Review
Genetics & Heredity
Hetanshi Naik, Latha Palaniappan, Euan A. Ashley, Stuart A. Scott
Editorial Material
Genetics & Heredity
Stuart A. Scott, Jesse J. Swen
Article
Pharmacology & Pharmacy
Dagmar F. Hernandez-Suarez, Mariana R. Botton, Stuart A. Scott, Matthew Tomey, Mario J. Garcia, Jose Wiley, Pedro A. Villablanca, Kyle Melin, Angel Lopez-Candales, Jessicca Y. Renta, Jorge Duconge
PHARMACOGENOMICS & PERSONALIZED MEDICINE
(2018)