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...
Whole genome sequencing (WGS) improves Mendelian disorder diagnosis over whole exome sequencing (WES); however, additional diagnostic yields and costs remain undefined. We investigated differences between diagnostic and cost outcomes of WGS and WES in a cohort with suspected Mendelian disorders. WGS was...
Special Article © American College of Medical Genetics and Genomics Self-guided management of exome and whole-genome sequencing results: changing the results return model Joon-Ho Yu, MPH, PhD1, Seema M. Jamal, MSc1, Holly K. Tabor, PhD1,2 and Michael J. Bamshad, MD1,3 Researchers and...
Therefore, using whole-exome and whole-genome sequencing (WES and WGS, respectively), we aimed to identify novel PAVs and protein-truncating variants (PTVs, as putative loss-of-function variants) affecting serum lipid and lipoprotein measurements, complemented with serum nuclear magnetic resonance (...
This economic evaluation estimates the cost-effectiveness of whole-genome sequencing compared with whole-exome sequencing and conventional testing in
whole genome sequencing (WGS)Next generation sequencing (NGS, also called Massively Parallel Sequencing) can be performed using a number of different platforms. The general process is very similar across them all: (1) extracted DNA is sheared into fragments (which, in targeted methods can be ...
Whole genome sequencing (WGS) vs. Whole exome sequencing (WES) Whole genome sequencing (WGS) is used to determine the order of every single nucleotide in an individual’s genome. This is a powerful way to uncover genomic variation, including disease-associated mutations. However, sequencing ent...
Whole exome sequencing is a powerful tool to investigate genetic variations underlying cancers, Mendelian diseases, and complex human disorders.
In this review, we discuss the clinical potential of CNV identification in whole exome sequencing and whole genome sequencing data and the implications this has on diagnostic laboratories. 展开 关键词: clinical sequencing copy number variation next-generation sequencing structural variation ...
et al. Manta: rapid detection of structural variants and indels for germline and cancer sequencing applications. Bioinformatics 32, 1220–1222 (2016). 32. Ha, G. et al. TITAN: inference of copy number architectures in clonal cell populations from tumor whole-genome sequence data. Genome Res. ...