with over 270 identified genes and loci; however, there are still many identified disorders with no current genetic etiology. Whole exome sequencing (WES) provides a hypothesis-free first examination of IRD patients in either a clinical or research setting to identify the genetic...
Whole-exome sequencing reveals recurrent somatic mutation networks in cancer. Cancer Letters. 2012. http://dx.doi.org/10.1016/j.canlet.2012.11.002Liu X, Wang J, Chen L. Whole-exome sequencing reveals recurrent somatic mutation networks in cancer. Cancer Lett. 2013;340(2):270-6....
Whole-exome sequencing focuses on what is thought to be the most medically relevant part of the human genome, as this reduces the overhead of both the molecular and analytical aspects. This approach has been broadly applied to identifying the genes that underlie rare disorders. In only the pas...
Intrahepatic cholangiocarcinoma (ICC) is the second most common primary hepatic malignancy after hepatocellular carcinoma, with poor prognosis and limited treatment options. The genomic features of ICC in Chinese patients remain largely unknown. In this study, we perform deep whole-exome sequencing of 2...
In this review, we aim to review all the studies that performed whole-exome sequencing or whole-genome sequencing on chronic lymphocytic leukemia cells and explore the implication of various genes in disease prognosis.Hobeika, CharbelRached, GaelleChebly, AlainChouery, ElianeKourie, Hampig Raphael...
Whole exome sequencing (WES) is increasingly being used in the prenatal setting. The emerging data support the clinical utility of prenatal WES based on its diagnostic yield, which can be as high as 80% for certain ultrasound findings. However, detailed practice and laboratory guidelines, ...
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 ...
REVIEW Journal of Human Genetics (2014) 59, 5–15 & 2014 The Japan Society of Human Genetics All rights reserved 1434-5161/14 www.nature.com/jhg The promise of whole-exome sequencing in medical genetics Bahareh Rabbani1, Mustafa Tekin2 and Nejat Mahdieh3 Massively parallel DNA-sequencing ...
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...
Peer Review reports From: Whole exome sequencing reveals novel COL4A3 and COL4A4mutations and resolves diagnosis in Chinese families with kidney disease Original Submission 23 Jul 2014 Submitted Original manuscript 25 Jul 2014 Author responded Author comments - Fujun Lin Resubmission - Version 2 25...