genome sequencing. Whole-genome sequencing Exome sequencing is only able to identify those variants found in the coding region of genes which affect protein function. It is not able to...
Whole-exome sequencing covers all protein-coding regions of the genome —it's an efficient way to search for disease-related genetic variants.
Learn more about how whole exome sequencing at Mayo Clinic Laboratories can quickly end diagnostic testing odysseys for patients with suspected genetic disorders.
Case Report: Whole-Exome Sequencing-Based Copy Number Variation Analysis Identified a Novel DRC1 Homozygous Exon Deletion in a Patient With Primary Ciliary Dyskinesia. by Ying Liu, Cheng Lei, Rongc...
엑솜 검사, 전장 엑솜 염기서열분석 (Whole Exome sequencing, WES) 전체 유전체 중 2만여 개에 달하는 유전자의 단백질을 코딩하는 엑손(exon) 부위를 분석하는 것으로 전체 유전체의 1% 정도입니다. 질환과...
3B-GENOME은 사람의 유전체 전 영역을 커버하는 검사 기법인 Whole Genome Sequencing(WGS)을 기반으로 환자의 증상을 유발하는 병원성 변이를 선별하고 해석합니다.
Discover how exome sequencing is a fast and affordable alternative to using whole-genome sequencing for your research, enabling you to identify somatic and germline genetic variants within coding r...
Methods: We performed whole-exon sequencing of 33 HMCLs, which were established over the last 50 years in 12 laboratories. Gene expression profiling and drug testing for the 33 HMCLs are...
Explore our Whole exome sequencing (WES) test and delve into the intricacies of protein-coding regions, paving the way for personalized medicine.
A comprehensive survey was carried out to investigate the genetic etiology of short stature in children by whole exon sequencing of a core family cohort to find and study mutations in multiple gene...