Ontology highlight
ABSTRACT:
SUBMITTER: Blake B
PROVIDER: S-EPMC10421693 | biostudies-literature | 2023 Sep
REPOSITORIES: biostudies-literature
Blake Bianca B Brady Lauren I LI Rouse Nicholas A NA Nagy Peter P Tarnopolsky Mark A MA
Journal of pediatric genetics 20211109 3
Whole-genome sequencing (WGS) is being increasingly utilized for the diagnosis of neurological disease by sequencing both the exome and the remaining 98 to 99% of the genetic code. In addition to more complete coverage, WGS can detect structural variants (SVs) and intronic variants (SNVs) that cannot be identified by whole exome sequencing (WES) or chromosome microarray (CMA). Other multi-omics tools, such as RNA sequencing (RNA-Seq), can be used in conjunction with WGS to functionally validate ...[more]