Targeted DNA-seq and RNA-seq of Reference Samples with Short-read and Long-read Sequencing

Autor: Binsheng Gong, Dan Li, Paweł P. Łabaj, Bohu Pan, Natalia Novoradovskaya, Danielle Thierry-Mieg, Jean Thierry-Mieg, Guangchun Chen, Anne Bergstrom Lucas, Jennifer S. LoCoco, Todd A. Richmond, Elizabeth Tseng, Rebecca Kusko, Scott Happe, Timothy R. Mercer, Carlos Pabón-Peña, Michael Salmans, Hagen U. Tilgner, Wenzhong Xiao, Donald J. Johann, Wendell Jones, Weida Tong, Christopher E. Mason, David P. Kreil, Joshua Xu
Jazyk: angličtina
Rok vydání: 2024
Předmět:
Zdroj: Scientific Data, Vol 11, Iss 1, Pp 1-13 (2024)
Druh dokumentu: article
ISSN: 2052-4463
DOI: 10.1038/s41597-024-03741-y
Popis: Abstract Next-generation sequencing (NGS) has revolutionized genomic research by enabling high-throughput, cost-effective genome and transcriptome sequencing accelerating personalized medicine for complex diseases, including cancer. Whole genome/transcriptome sequencing (WGS/WTS) provides comprehensive insights, while targeted sequencing is more cost-effective and sensitive. In comparison to short-read sequencing, which still dominates the field due to high speed and cost-effectiveness, long-read sequencing can overcome alignment limitations and better discriminate similar sequences from alternative transcripts or repetitive regions. Hybrid sequencing combines the best strengths of different technologies for a more comprehensive view of genomic/transcriptomic variations. Understanding each technology’s strengths and limitations is critical for translating cutting-edge technologies into clinical applications. In this study, we sequenced DNA and RNA libraries of reference samples using various targeted DNA and RNA panels and the whole transcriptome on both short-read and long-read platforms. This study design enables a comprehensive analysis of sequencing technologies, targeting protocols, and library preparation methods. Our expanded profiling landscape establishes a reference point for assessing current sequencing technologies, facilitating informed decision-making in genomic research and precision medicine.
Databáze: Directory of Open Access Journals
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