Zobrazeno 1 - 10
of 4 540
pro vyhledávání: '"Long-read"'
Publikováno v:
BMC Microbiology, Vol 24, Iss 1, Pp 1-17 (2024)
Abstract Background Long-read 16S rRNA gene amplicon sequencing has a high potential for characterizing food-associated microbiomes. The advantage results from sequencing the full-length (1,500 bp) gene, enabling taxonomic resolution at species level
Externí odkaz:
https://doaj.org/article/24239f0dbefb4382a1499eefba4023b3
Autor:
Marlene Ek, Malin Kvarnung, Maria Pettersson, Maria Johansson Soller, Britt-Marie Anderlid, Håkan Thonberg, Jesper Eisfeldt, Anna Lindstrand
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-7 (2024)
Abstract Inversions are balanced structural variants that often remain undetected in genetic diagnostics. We present a female proband with a de novo Chromosome 15 paracentric inversion, disrupting MEIS2 and NUSAP1. The inversion was detected by short
Externí odkaz:
https://doaj.org/article/286c414a05a3478b8b1e65deb41fa8be
Autor:
Liang Zong, Yabing Zhu, Yuan Jiang, Ying Xia, Qun Liu, Jing Wang, Song Gao, Bei Luo, Yongxian Yuan, Jingjiao Zhou, Sanjie Jiang
Publikováno v:
RNA Biology, Vol 21, Iss 1, Pp 1199-1208 (2024)
Next-generation sequencing has revolutionized cancer genomics by enabling high-throughput mutation screening yet detecting fusion genes reliably remains challenging. Long-read sequencing offers potential for accurate fusion transcript identification,
Externí odkaz:
https://doaj.org/article/d7f4ce570d1d4f228c960017df1f4f18
Publikováno v:
Computational and Structural Biotechnology Journal, Vol 23, Iss , Pp 3186-3198 (2024)
Axolotls are known for their remarkable regeneration ability. Exploring their transcriptome provides insight into regenerative mechanisms. However, the current annotation of the axolotl transcriptome is limited, leaving the role of unannotated transc
Externí odkaz:
https://doaj.org/article/3eefbffe86c346d38750578e9452c358
Autor:
Juan Jose Rojo-Carrillo, Pedro Garrido-Rodríguez, Maria Llamas-López, Rosa Cifuentes-Riquelme, Jose Padilla, Bruno Ramos-Molina, Maria Luisa Lozano, Belen de la Morena-Barrio, Maria Eugenia de la Morena-Barrio, Javier Corral
Publikováno v:
BMC Genomics, Vol 25, Iss 1, Pp 1-20 (2024)
Abstract Background Protein-coding genes have been considered the functional part of the genome, although they represent only 2% of the genome. In contrast, more than 90% of the genome produces non-coding RNA (ncRNA), including antisense (AS) genes,
Externí odkaz:
https://doaj.org/article/939e317103734a6fa207bb9bd1230419
Autor:
Griet De Clercq, Lies Vantomme, Barbara Dewaele, Bert Callewaert, Olivier Vanakker, Sandra Janssens, Bart Loeys, Mojca Strazisar, Wouter De Coster, Joris Robert Vermeesch, Annelies Dheedene, Björn Menten
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-12 (2024)
Abstract Structural variants (SVs) are important contributors to human disease. Their characterization remains however difficult due to their size and association with repetitive regions. Long-read sequencing (LRS) and optical genome mapping (OGM) ca
Externí odkaz:
https://doaj.org/article/ddf31f2fa73e4d6bbc89654922dff66c
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-12 (2024)
Abstract During a bacterial infection or colonization, the detection of antimicrobial resistance (AMR) is critical, but slow due to culture-based approaches for clinical and screening samples. Culture-based phenotypic AMR detection and confirmation r
Externí odkaz:
https://doaj.org/article/fa0dfbefca7547218f59a95b682bb4cc
Autor:
Fengxia Yao, Na Hao, Danhua Li, Weimin Zhang, Jingwen Zhou, Zhengqing Qiu, Aiping Mao, Wanli Meng, Juntao Liu
Publikováno v:
Human Genomics, Vol 18, Iss 1, Pp 1-15 (2024)
Abstract Background The clinical diagnosis of Fabry Disease (FD) can be challenging due to the clinical heterogeneity, especially in females. Patients with FD often experience a prolonged interval between the onset of symptoms and receiving a diagnos
Externí odkaz:
https://doaj.org/article/fdc745c289a64005a37f35fd78a1c837
Autor:
Fabian Landman, Casper Jamin, Angela de Haan, Sandra Witteveen, Jeroen Bos, Han G. J. van der Heide, Leo M. Schouls, Antoni P. A. Hendrickx, Dutch CPE/MRSA surveillance study group
Publikováno v:
Genome Medicine, Vol 16, Iss 1, Pp 1-14 (2024)
Abstract Background Multidrug-resistant organisms (MDRO) pose a significant threat to public health worldwide. The ability to identify antimicrobial resistance determinants, to assess changes in molecular types, and to detect transmission are essenti
Externí odkaz:
https://doaj.org/article/06b515edb0d740948627c0af3e023ffc
Publikováno v:
BMC Medical Genomics, Vol 17, Iss 1, Pp 1-13 (2024)
Abstract Background MAGEL2 is an autism susceptibility gene whose deficiency has been associated with autism-related behaviors in animal models and in syndromic human autism spectrum disorders (ASDs) such as Schaaf-Yang syndrome, but has not been stu
Externí odkaz:
https://doaj.org/article/113e4fb3a1fa4a4da54b2aaded1627e6