MAY 13, 2015 12:00 PM PDT

DNASTAR Software For Accurate Variant Detection and Validation in Targeted Gene Panel Data Sets

Speaker

Abstract

DNASTAR offers an integrated suite of software for accurate assembly and analysis of sequence data from all major next-generation sequencing platforms supporting key workflows including targeting resequencing. The efficiency of variant detection in gene panels is determined by multiple factors, including specificity of primers and probes used for gene panel design, efficiency of the sequencing technology, accuracy of assembly, accuracy of variant calling, and stringency of variant filters. The DNASTAR gene panel workflow supports all gene panel sets from Illumina and Ion Torrent as well as custom gene panel data sets. When this data is used in conjunction with a validated variant data set, DNASTAR software can calculate variant calling sensitivity, specificity, and accuracy. By utilizing this workflow, users can validate their entire gene panel assembly and analysis process and the speed and accuracy of DNASTAR software. Two learning objectives are: 1. Understand the importance of validation control for next-gen sequencing data 2. Learn how an integrated software package can facilitate easy assembly, visualization, and analysis of NGS data


Show Resources
You May Also Like
JUN 21, 2022 6:00 AM PDT
JUN 21, 2022 6:00 AM PDT
Date: June 21, 2022 Time: 6:00am (PDT), 9:00am (EDT), 3:00pm (CEST) The global understanding and practice of medicine is currently undergoing a revolutionary change. This shift to precision...
MAR 23, 2022 11:00 AM PDT
MAR 23, 2022 11:00 AM PDT
Date: March 23, 2021 Time: 11:00am (PDT), 2:00pm (EDT), 8:00pm (CEDT) In this presentation, Dr. Middleton will review the development and deployment of large-scale saliva-based COVID-19 test...
JUN 28, 2022 7:00 AM PDT
JUN 28, 2022 7:00 AM PDT
Date: June 28, 2022 Time: 3:00pm (BST), 4:00pm (CET), 9:00am (CST), 7am (PST) Light-sheet microscopy is an extremely versatile imaging technique with a vast range of implementations that are...
MAY 19, 2022 8:00 AM PDT
MAY 19, 2022 8:00 AM PDT
Date: May 19, 2022 Time: 8:00am (PDT), 11:00pm (EDT), 5:00pm (CEST) Mass spectrometry (MS)-based proteomic technologies are increasingly applied in a clinical context for disease classific...
AUG 10, 2022 10:00 AM PDT
AUG 10, 2022 10:00 AM PDT
Date: August 10, 2022 Time: 10:00am PDT, 1:00pm EDT The global pandemic has increased focus and scrutiny on molecular diagnostic assay development, resulting in a need for assays that provid...
MAY 17, 2022 9:00 AM PDT
MAY 17, 2022 9:00 AM PDT
Date: May 17, 2022 Time: 9:00am (PDT), 12:00pm (EDT), 8:00pm (CEST) Gene therapeutics have great potential to treat many severe diseases in an unprecedented, targeted manner. The biopharmace...
MAY 13, 2015 12:00 PM PDT

DNASTAR Software For Accurate Variant Detection and Validation in Targeted Gene Panel Data Sets



Show Resources
Loading Comments...
Show Resources
Attendees