LongReadSum: A fast and flexible quality control and signal summarization tool for long-read sequencing data by Jonathan Elliot Perdomo, Mian Umair Ahsan, Qian Liu, Li Fang, Kai Wang

Subjects: Get full text

Clade-specific long-read sequencing increases the accuracy and specificity of the gyrB phylogenetic marker gene by Robert G. Nichols, Emily R. Davenport

Subjects: Get full text

Gene Fusion Detection in Long-Read Transcriptome Datasets from Multiple Cancer Cell Lines by Keigo Masuda, Yoshiaki Sota, Hideo Matsuda

Subjects: Get full text

Nanopore sequencing of protozoa: Decoding biological information on a string of biochemical molecules into human-readable signals by Branden Hunter, Timothy Cromwell, Hyunjin Shim

Subjects: Get full text

The quality and detection limits of mitochondrial heteroplasmy by long read nanopore sequencing by Barbara Slapnik, Robert Šket, Klementina Črepinšek, Tine Tesovnik, Barbara Jenko Bizjan, Jernej Kovač

Subjects: Get full text

Studying Rare Movement Disorders: From Whole-Exome Sequencing to New Diagnostic and Therapeutic Approaches in a Modern Genetic Clinic by Luca Marsili, Kevin R. Duque, Jesus Abanto, Nathaly O. Chinchihualpa Paredes, Andrew P. Duker, Kathleen Collins, Marcelo Miranda, M. Leonor Bustamante, Michael Pauciulo, Michael Dixon, Hassan Chaib, Josefina Perez-Maturo, Emily J. Hill, Alberto J. Espay, Marcelo A. Kauffman

Subjects: Get full text

Genomic surveillance of multidrug-resistant organisms based on long-read sequencing by 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

Subjects: Get full text

Compound heterozygous KCTD19 variants in a man with isolated nonobstructive azoospermia by Yuki Muranishi, Yuko Katoh‐Fukui, Atsushi Hattori, Yoshitomo Kobori, Akiyoshi Osaka, Hiroshi Okada, Toshiyuki Iwahata, Masafumi Kon, Nobuo Shinohara, Maki Fukami

Subjects: Get full text

Fraxinellone-mediated targeting of cathepsin B leakage from lysosomes induces ferroptosis in fibroblasts to inhibit hypertrophic scar formation by Wei Xu, Hao Lv, Yaxin Xue, Xiaofeng Shi, Shaotian Fu, Xiaojun Li, Chuandong Wang, Danyang Zhao, Dong Han

Subjects: Get full text

CNVizard—a lightweight streamlit application for an interactive analysis of copy number variants by Jeremias Krause, Carlos Classen, Daniela Dey, Eva Lausberg, Luise Kessler, Thomas Eggermann, Ingo Kurth, Matthias Begemann, Florian Kraft

Subjects: Get full text

Shedding light on DNA methylation and its clinical implications: the impact of long-read-based nanopore technology by Alexandra Chera, Mircea Stancu-Cretu, Nicolae Radu Zabet, Octavian Bucur

Subjects: Get full text

Unsupervised detection of novel SARS-CoV-2 mutations and lineages in wastewater samples using long-read sequencing by Ignacio Garcia, Rasmus K. Riis, Line V. Moen, Andreas Rohringer, Elisabeth H. Madslien, Karoline Bragstad

Subjects: Get full text

Long read Nanopore sequencing identifies precise breakpoints of a de novo paracentric inversion that disrupt the MEIS2 gene in a Chinese girl with syndromic developmental delay by Jianxin Tan, Mingtao Huang, Xiuqing Ji, An Liu, Fengchang Qiao, Cuiping Zhang, Lulu Meng, Yan Wang, Zhengfeng Xu, Ping Hu

Subjects: “…Long read sequencing…”
Get full text

Comparative genomic study of the Penicillium genus elucidates a diverse pangenome and 15 lateral gene transfer events by Celine Petersen, Trine Sørensen, Mikkel R. Nielsen, Teis E. Sondergaard, Jens L. Sørensen, David A. Fitzpatrick, Jens C. Frisvad, Kåre L. Nielsen

Subjects: “…Long read sequencing…”
Get full text

Clinical evaluation of long-read sequencing-based episignature detection in developmental disorders by Mathilde Geysens, Benjamin Huremagic, Erika Souche, Jeroen Breckpot, Koenraad Devriendt, Hilde Peeters, Griet Van Buggenhout, Hilde Van Esch, Kris Van Den Bogaert, Joris Robert Vermeesch

Subjects: “…Long-read sequencing…”
Get full text

Long‐Read Sequencing Identifying the Genetic Complexity of Congenital Adrenal Hyperplasia in the Pedigree by Ximin Chen, Jing Zhao, Danhua Li, Na Xi, Danying Yi, Mengjia Yan, Yan Yin, Xueyan Wang

Subjects: Get full text

Long-read sequencing enables comprehensive molecular genetic diagnosis of Fabry disease by Fengxia Yao, Na Hao, Danhua Li, Weimin Zhang, Jingwen Zhou, Zhengqing Qiu, Aiping Mao, Wanli Meng, Juntao Liu

Subjects: Get full text

Seq2scFv: a toolkit for the comprehensive analysis of display libraries from long-read sequencing platforms by Marianne Bachmann Salvy, Luca Santuari, Emanuel Schmid-Siegert, Nikolaos Lykoskoufis, Ioannis Xenarios, Bulak Arpat

Subjects: Get full text

Extracellular vesicles, RNA sequencing, and bioinformatic analyses: Challenges, solutions, and recommendations by Rebecca T. Miceli, Tzu‐Yi Chen, Yohei Nose, Swapnil Tichkule, Briana Brown, John F. Fullard, Marilyn D. Saulsbury, Simon O. Heyliger, Sacha Gnjatic, Natasha Kyprianou, Carlos Cordon‐Cardo, Susmita Sahoo, Emanuela Taioli, Panos Roussos, Gustavo Stolovitzky, Edgar Gonzalez‐Kozlova, Navneet Dogra

Subjects: Get full text

Targeted sequencing analysis pipeline for species identification of human pathogenic fungi using long-read nanopore sequencing by Nattapong Langsiri, Navaporn Worasilchai, Laszlo Irinyi, Piroon Jenjaroenpun, Thidathip Wongsurawat, Janet Jennifer Luangsa-ard, Wieland Meyer, Ariya Chindamporn

Subjects: Get full text