Whole genome sequencing (WGS) can provide comprehensive insights into the genetic makeup of lymphomas. Here we describe a selection of methods for the analysis of WGS data, including alignment, identification of different classes of genomic variants, the identification of driver mutations, and the ...
The data were analyzed with respect to the use of ... WH Traub,EA Raymond,J Linehan - 《Applied Microbiology》 被引量: 43发表: 1970年 Revolutionising Public Health Reference Microbiology using Whole Genome Sequencing: Salmonella as an exemplar Advances in whole genome sequencing (WGS) platforms...
Whole-genome DNA sequence (WGS) data in livestock may lead to an increase in prediction accuracy, especially in less related populations [1,2], and a better resolution to identify causal loci for traits of interest [3]. Advances in next generation sequencing (NGS) technologies and a rapid de...
In cancer genome analysis, identifying pathogenic alterations and assessing their effects on oncogenic processes is important. Although whole exome sequencing (WES) can effectively detect such changes, driver alterations could not be identified in 27.8% of the cases, according to a previous study. The...
Whole genome sequencing (WGS) has increased in popularity and decreased in cost over the past decade, rendering this approach as a viable and sensitive method for variant detection. In addition to its utility for single nucleotide variant detection, WGS data has the potential to detect Copy Number...
To prospectively evaluate the diagnostic and clinical utility of singleton whole-exome sequencing (WES) as a first-tier test in infants with suspected monogenic disease. Singleton WES was performed as a first-tier sequencing test in infants recruited fro
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However, the practical application of whole-genome sequencing in clinical settings is currently constrained by the need for an initial TB culture to obtain a sufficient amount of bacteria for sequencing [11]. In contrast, targeted nanopore sequencing (TNPseq) allows direct analysis of clinical ...
In the design of whole-genome sequencing (WGS) studies, sequencing depth is a crucial parameter to define variant calling accuracy and study cost, with no standard recommendations having been established. We empirically evaluated the variant calling accuracy of the WGS pipeline using ultra-deep WGS ...
In recent years, many software packages for identifying structural variants (SVs) using whole-genome sequencing data have been released. When published, a new method is commonly compared with those already available, but this tends to be selective and incomplete. The lack of comprehensive benchmarkin...