Fast and scalable exome sequencing “Speed is important for our service. But so is daily processing of exomes without batching. Ion Torrent platform offers us both.” Dr. Sara Alvarez, Medical Director NIMGenetics, Spain Simple, efficient exome enrichment—se...
Whole exome sequencing (WES) enables the analysis of all protein coding sequences in the human genome. This technology enables the investigation of cancer-related genetic aberrations that are predominantly located in the exonic regions. WES delivers high-throughput results at a reasonable price. Here...
Whole-exome sequencing (WES) has become the strategy of choice to identify causal variants in monogenic disorders. However, the list of candidate variants can be quite large, including false positives generated by sequencing errors. To reduce this list of candidate variants to the most relevant ...
Copy number and genotype annotation from whole genome and whole exome sequencing data. Complete tutorial on how to run FREEC:http://boevalab.inf.ethz.ch/FREEC/tutorial.html Control-FREEC is a tool for detection of copy-number changes and allelic imbalances (including LOH) using deep-sequencing...
The tutorial for performing single-/multi-trait association analysis of whole-genome/whole-exome sequencing (WGS/WES) studies using FAVORannotator, STAARpipeline and STAARpipelineSummary - xihaoli/STAARpipeline-Tutorial
Using statistical models trained on validated whole-exome capture sequencing data, the Atlas2 Suite is an integrative variant analysis pipeline optimized for variant discovery on all three of the widely used next generation sequencing platforms (SOLiD, Illumina, and Roche 454). The suite employs logi...
endometriosis; whole-exome sequencing; rare variants; candidate genes; deep clinical evaluation; genotype–phenotype correlations Graphical Abstract1. Introduction Endometriosis (EM) is a chronic oestrogen-dependent disease characterised by the ectopic presence of active endometrium outside the uterine cavity...
It is thus plausible that the contribution of such structural rearrangements as the underlying genetic cause in many diseases may be underestimated, considering that exome sequencing fails to detect truncated genes with deep intronic breakpoints. A comprehensive study, resorting to transcriptome analysis ...
Watch one of our videos or check out one of our written tutorials to learn more about whole genome sequence analysis and whole exome sequencing analysis.Exome Analysis Tutorial See how to align exome resequencing data from all major NGS platforms against a reference sequence with unsurpassed ease...
Divine: Prioritizing Genes for Rare Mendelian Disease in Whole Exome Sequencing Data - hwanglab/divine