Integrated bioinformatics—complete data analysis in a few clicks The Ion AmpliSeq exome research solution integrates software and a bioinformatics pipeline to deliver a focused list of annotated exome variants, which helps to minimize the necessity for expensive ...
IMPACT: a whole-exome sequencing analysis pipeline for integrating molecular profiles with actionable therapeutics in clinical samples. J Am Med Inform Assoc 2016; 23:721-730.Hintzsche J, Kim J, Yadav V, et al. IMPACT: A Whole- exome Sequencing Analysis Pipeline for Integrating Molecular ...
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 is a powerful tool to investigate genetic variations underlying cancers, Mendelian diseases, and complex human disorders.
Whole exome sequencing variant analysis pipeline used to analyze the data published in the following manuscript- Gogate A, Kaur K, Goodspeed K, Evans P, Morris MA, Chahrour MH. The genetic landscape of autism spectrum disorder in an ancestrally diverse cohort. npj Genomic Medicine (2024) (Acc...
The Institutional Review Board (IRB) at Stanford has made the following determination about the activity of the study, titled “Exome sequencing analysis of suicidal behavior using high-throughput DNA sequencing”, based on Office for Human Research Protections (OHRP) and Food and Drug Administration...
To address this issue, the present study developed a systematic pipeline for analyzing the whole exome sequencing data of hepatocellular carcinoma (HCC) using a combination of the three algorithms, named the three-caller pipeline. Application of the three-caller pipeline to the whole exome data ...
exome sequencing (WES). Dr. Christian Marshall is leading the hospital’s research e orts to evaluate the Ion Proton ™ System or cost- e ectiveness in operations, concordance with gene panels, and the yields o whole- exome sequencing in studying complex disorders like autism. Customer pro...
Whole exome sequencing, owing to its low cost and computational burden, has become the standard for causal gene detection in disease and treatment management. This article provides a brief overview of exome data generation and discusses the computational pipeline involved in utilizing exome sequencing...
Whole genome sequencing (WGS) improves Mendelian disorder diagnosis over whole exome sequencing (WES); however, additional diagnostic yields and costs remain undefined. We investigated differences between diagnostic and cost outcomes of WGS and WES in a cohort with suspected Mendelian disorders. WGS was...