… for therapy in some cases by identifying the disease mechanism and potential drug targets
[… how short-read genome sequencing technology can facilitate detection of structural variants …

… research question, “Should exome sequencing or genome sequencing be used in the … age
compared to standard testing without exome or genome sequencing?” the authors assessed …

… next generation sequencing (NGS). High throughput and low cost of genomic sequencing
make the further insight into genetic diseases … rare diseases with the pathogenic gene is less …

… Genome sequencing involves assessing both the coding and noncoding regions … genome,
although a complete genome sequence is challenging to attain due to difficulty of sequencing …

… This has been widely used as a resource for estimating allele frequency in rare diseases,
disease gene discovery, and the biological effect of variation [163]. This has led to the creation …

… and clinical outcome of 332 patients in a designated infectious disease hospital in the … the
exome genome sequencing, we have carried out high-depth whole genome sequencing and …

… College of Medical Genetics and Genomics … exome or genome sequencing (ES/GS) should
report known pathogenic (KP) or expected pathogenic (EP) variants in a defined set of genes …

… exome sequencing (WES) and whole genome sequencing (WGS). Such approaches are
used in variant discovery and in combination with high-throughput functional assays such as …

… To test the broad applicability of genome sequencing, we … rare disease (as defined in the
United Kingdom as a disorder affecting ≤1 in 2000 persons), were likely to have a single-gene …

… -exome sequencing (WES) has a diagnostic yield of 25% for Mendelian disorders [61] and
whole-genome sequencing … genetic diseases [62]. In contrast to WES and WGS, targeted NGS …