exome sequencing data S Gazal et al 583 Application study To analyze the putative benefits of adding a linkage analysis performed with WES genotyping data to the WES filtering step to reduce the number of bona fide candidate variants, we used 'real' SNP chip and WES data obtained in ...
Whole exome sequencing (WES) of methotrexate response/adverse event profile in rheumatoid arthritis patientsAim of the work To preliminary study polymorphisms in a set of genes of relevance to methotrexate (MTX) response based on the Drug Bank database in Egyptian rheumatoid arthritis (RA) patients...
Whole-exome sequencing and data analysis. DNA samples from the probands of arRP families and 100 sporadic RP patients were subjected to WES at Axeq Technology Inc., Seoul, Korea. In brief, the work- flow of WES was as follows. First, the genomic DNA samples were fragmented into 150...
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 ...
Exome Sequencing of 18 Chinese Families with Congenital Cataracts: A New Sight of the NHS Gene Purpose The aim of this study was to investigate the mutation spectrum and frequency of 34 known genes in 18 Chinese families with congenital cataracts. Methods Genomic DNA and clinical data was collec...
then sequenced on an Illumina HiSEQ 4000 as paired-end 75b reads. Image analysis and base calling is performed using Illumina Real Time Analysis (RTA 2.1.3) with default parameters. Library preparation, exome capture, sequencing and data analysis have been done by IntegraGen SA (Evry, France...
Utilizing previously derived local data of Whole-Exome Sequencing (WES), we examined SNPs of TPCN1, TPCN2, P2RX4, TRPM7, TRPV4, TRPV4, and TRPV6 genes. The SNPs were identified for those genes by our in-house database. We predicted the pathogenicity of these variants using in silico ...
Exome and whole genome sequencing have become the preferred approaches for discovering novel causal mutations in monogenic disorders. The effectiveness of these approaches has greatly improved thanks to large datasets of non﹎onogenic controls such as Exac and Gnomad, and bioinformatics approaches such ...
To identify the genetic defect in this family, whole-exome sequencing together with validation analysis by Sanger sequencing were performed to find possible pathogenic mutations. After a pipeline of database filtering, including public databases and in-house databases, a novel missense mutation, c. ...
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 ...