The utility of exome sequencing analysis

Dr. Júlia Baptista discusses the utility of exome sequencing analysis in solving rare genetic disorders: the Exeter experience

Júlia Baptista, PhD
Presented by
Júlia Baptista, PhD
RECORDED AT ESHG 2019

Covered in this Webinar
Uses of the Twist Human Core Exome Kit at Royal Devon and Exeter Hospital
Making a protocol that uses little DNA to solve rare genetic disorders
Gene-agnostic approach of finding causative genes by using a trio analysis

Believe in Better: Leading the Way in Target EnrichmentTwist Bioscience uses its proprietary DNA synthesis platform to build target enrichment panels for researchers performing next-generation sequencing experiments and analysis. Due to the precision of these Twist capture probes, researchers are able to considerably improve the accuracy of the downstream sequencing analysis and perform fewer sequencing runs per sample without sacrificing performance, saving them time and money. During this workshop, presenters will discuss various applications and present data from their work using Twist NGS Target Enrichment Solutions.

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