Research Library

The top resource for free research, white papers, reports, case studies, magazines, and eBooks.

Share Your Content with Us
on TradePub.com for readers like you. LEARN MORE
NGS Variant Annotation, Filtering, and Triage Using QCI Interpret Translational Whole-Exome Sequencing Workflow

Request Your Free White Paper Now:

"NGS Variant Annotation, Filtering, and Triage Using QCI Interpret Translational Whole-Exome Sequencing Workflow"

The vast amount of data generated by whole-exome sequencing (WES) introduces new opportunities for cancer research, but simultaneously poses challenges that require novel computational and theoretical approaches in big data analysis. While workflows for raw data processing and variant calling have improved, filtering tens of thousands of candidate genes and variants to identify a subset of relevant ones is still complex.

The most challenging part of using WES is analyzing, interpreting, and filtering the large number of detected variants.

A robust, methodical WES analysis pipeline is essential to help researchers decipher which of the detected variants have functional significance and which are irrelevant to the phenotype in question. In order to pinpoint the most relevant variants, comprehensive annotation of all detected variants is necessary. With large data sets coming from WES, prioritization is crucial to reduce the list of relevant variants to a manageable set requiring further validation.

This application note from Qiagen presents a protocol for whole-exome variant annotation using QCI Interpret Translational, a next-generation sequencing variant assessment software solution that enables evidence-powered variant annotation, filtering, and triage for human exome, genome, and large cohort sequencing data.


Offered Free by: Qiagen
See All Resources from: Qiagen

Recommended for Professionals Like You: