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- Title
Assessing the impact of sequencing platforms and analytical pipelines on whole-exome sequencing.
- Authors
Yanping Sun; Xiaochao Zhao; Xue Fan; Miao Wang; Chaoyang Li; Yongfeng Liu; Ping Wu; Qin Yan; Lei Sun
- Abstract
This document is a data report that assesses the impact of sequencing platforms and analytical pipelines on whole-exome sequencing (WES). It discusses the use of next-generation sequencing (NGS) and WES in clinical applications and evaluates the influence of different sequencing platforms and analysis pipelines on WES results. The study compares the performance of popular analysis pipelines and discusses the impact of NGS technology on genomics research. It also provides information on specific sequencing platforms and uses a genotype dataset to test WES variants and assess the consistency of replicates. The document emphasizes the importance of optimizing analytical pipelines and sequencing platforms to improve WES results.
- Subjects
GENETIC models; NUCLEOTIDE sequencing; GENETIC testing; NUCLEIC acids; WHOLE genome sequencing; CANCER genes
- Publication
Frontiers in Genetics, 2024, p1
- ISSN
1664-8021
- Publication type
Article
- DOI
10.3389/fgene.2024.1334075