whole-exome sequencinglung adenocarcinomaesophageal squamous cell carcinomahepatocellular carcinomasomatic mutationgermline mutationneoantigenThe incidence of multiple primary malignancies(MPMs)has been increasing rapidly in recent years,however,the genetic pathogenesis is largely unknown on account of rare cases,...
An investigation exploring the direct clinical application of whole-exome sequencing (WES) to detect potential therapeutic targets in patients with metastatic cancers has yielded clinically useful information, including the identification of alterations for which an approved drug is available or in ...
Whole exome sequencing is a powerful tool to investigate genetic variations underlying cancers, Mendelian diseases, and complex human disorders.
it is now feasible and affordable to use whole exome sequencing (WES) or even whole genome sequencing (WGS) to systematically interrogate virtually all coding variants in the human genome. Thus, in an effort to study the role of rare variation in SLE, we analysed WES data from five patient...
Whole Exome Sequencing (WES) is a groundbreaking genetic test that examines the coding regions of your DNA. These regions, known as exons, contain crucial information about the proteins responsible for various biological functions. Whole Genome Sequencing (WGS) has also revolutionized genomics research...
Genetic disorders significantly affect patients in neonatal intensive care units, where establishing a diagnosis can be challenging through routine tests and supplementary examinations. Whole-exome sequencing offers a molecular-based approach for diagnos
The study screened a cohort of patients (n = 167) with primary male infertility in contrast to 210 normally fertile men using whole exome sequencing (WES). The expression analysis of the candidate genes based on public single cell sequencing data was performed using the R language Seurat ...
Learn about what whole exome sequencing is, why it’s important, and how it’s furthering discoveries in cancer research.
Whole-exome sequencing (WES) is application of the next-generation technology to determine the variations of all coding regions, or exons, of known genes. WES provides coverage of more than 95% of the exons, which contains 85% of disease-causing mutations in Mendelian disorders and many ...
Here, we used the whole-exome sequencing (WES) technology to decipher the genetic cause of nephrotic syndrome (CKD stage-V) in a large affected consanguineous family. Our study exposed a novel missense homozygous mutation NC_000019.9:g.41209497C > T; NM_024876.4:c.748G > A; NP...