Key Points: Question: Is whole-genome sequencing (WGS) more cost-effective than whole-exome sequencing for children with suspected genetic disorders? Findings: The results of this economic evaluation of a cohort of 870 pediatric patients suggest that adopting W...
This economic evaluation estimates the cost-effectiveness of whole-genome sequencing compared with whole-exome sequencing and conventional testing in
Zhiming Cai and colleagues report whole-genome and whole-exome sequencing of 99 paired tumor-normal samples of transitional cell carcinoma of the bladder. They find that 32% of tumors harbor alterations in genes involved in sister chromatid cohesion, inc
The sheer volume of data generated from whole exome sequencing and whole genome sequencing presents a challenge for many researchers faced with the prospect of assembling and analyzing it. Whether you are working with whole genome, whole exome, or other targeted sequencing data, the resulting ...
In this work we set out to compare exome-seq with whole genome sequencing (WGS) in terms of their sensitivity to correctly detect known variants over the whole exome. The process of exome-seq has known issues that impact negatively on SNP detection sensitivity. These include ...
Whole-genome (WGS) and whole-exome sequencing (WES) were carried out at six sequencing centers followed by processing with nine bioinformatics pipelines to evaluate reproducibility. We identified artifacts of C>A mutations in WES due to sample and library processing and highlighted limitations of ...
Learn about whole exome sequencing (WES), a targeted next generation sequencing method that identifies all the protein-coding genes (exons) in the genome.
ANumber of metabolites associated with each locus;BAbsolute distance from mQTL position to transcription start site;CMinor allele frequency and effect size;DFrequency of mQTL sentinel allele in non-Finnish European Individuals vs African individuals;ELocation of mQTL.WGAS whole genome association study...
Exome sequencing is a targeted sequencing approach that is restricted to the protein-coding regions of genomes. The exome is estimated to encompass approximately 1% of the genome, yet contains approximately 85% of disease-causing mutations [1]. For genetic r...
Exome sequencing is a targeted sequencing approach that is restricted to the protein-coding regions of genomes. The exome is estimated to encompass approximately 1% of the genome, yet contains approximately 85% of disease-causing mutations [1]. For genetic r...