“Ion AmpliSeq Exome RDY Kit provides the simplest exome enrichment. The dried-down primers reduce the number of pipetting steps and allow preparation of reproducible libraries that sequence with high uniformity. The straightforward workflow–similar to PCR–allow...
Please see our resources below for more information on whole genome/whole exome sequencing analysis. 7 Steps for Human Variant Analysis Download eBook Identifying Candidate Variants and Their Effects on Protein Structure View Poster A Next-Gen Sequencing Software Workflow for Gene Panel Validation Cont...
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...
Whole genome sequencing (WGS) vs. Whole exome sequencing (WES) Whole genome sequencing (WGS)is used to determine the order of every single nucleotide in an individual’s genome. This is a powerful way to uncover genomic variation, including disease-associated mutations. However, sequencing entire...
exome sequencing data to identify specific variants, as well as its applications in clinical settings. In particular, we present the steps necessary to facilitate relevant data analysis practices, and survey relevant computational tools to streamline these analyses. This article is aimed to serve as ...
The bioinformatics workflow for WGS is similar to that for whole exome sequencing. You can view our articleBioinformatics Workflow for Whole Exome Sequencing. The bioinformatics workflow for WGS falls into the following steps: (1) raw read quality control; (2) data preprocessing; (3) alignment;...
The WES data of 109 patients, referred under the suspicion of a mitochondrial disorder, were examined in two steps. First, the data were filtered using a virtual gene panel of genes known to be associated with mitochondrial disease. If negative, the entire exome was examined. A molecular ...
. For 1× whole-genome sequencing of 22 patient tumor biopsies, 25 ng genomic DNA was subjected to the library construction steps of the Nextera Rapid Capture Exome Kit (Illumina) at half volume but not to hybrid selection. Sequencing to generate 100 bp paired-end reads was performed ...
Exome sequencing detected a large number of variants, and several filtering steps were used to reduce the number of candidate variants for downstream analyses (described in detail in Supplementary Information). The analysis workflow is illustrated in Figure 1. The distribution of variants predicted to...
Whole-exome sequencing (WES), a ground-breaking technology, has emerged as a linchpin in neurology and neurosurgery, offering a comprehensive elucidation of the genetic landscape of various neurological disorders. This transformative methodology concentr