Product Webinars - NGS Constitutional Disease Research



SureSelect Focused Exome
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SureSelect Focused Exome

 

Many are called, Few are chosen


Maria Celeste Ramirez, Ph.D.
, Global NGS Product Manager, SureSelect, Agilent Technologies, Inc.

To help reduce the time from sample to answers, Agilent developed the SureSelect Focused Exome, a design optimized to provide faster time to answers by targeting only those disease-associated targets as defined by databases such as HGMD, OMIM and ClinVar, as well as provide compatibility with benchtop sequencers which enable single samples or trios to be sequenced in minimal time and in a cost-effective manner. Coupled with SureSelectQXT, the fastest capture-based target enrichment solution, samples can be prepped, enriched and ready for sequencing in a day. This combined solution provides deep coverage of only these selected targets enabling high sensitivity for easy identification of variants, even those of low frequency <5%, when sequenced at 200x average depth, enabling reduced time from sample to answers and accelerating discoveries.

 

SureSelect Clinical Research Exome
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SureSelect Clinical Research Exome

 

The Utility of Exome Sequencing in Providing Deep Coverage of Disease-Relevant Targets


Madhuri Hegde PhD, FACMG,
Emory University Genetics Laboratory; Avni Santani, Assistant Professor of Clinical Pathology, Perelman School of Medicine, University of Pennsylvania, Scientific Director, Molecular Genetics Lab, Children's Hospital of Philadelphia; Birgit Funke Ph.D., FACMG, Director, Clinical R&D, Partners HealthCare Center.

In this talk, we cover our group’s effort to define and curate all disease-relevant genes in close collaboration with the ClinGen consortium and creating a technically enhanced ES assay that provides adequate coverage of all currently known disease-relevant genes. Our first optimization was carried out using Agilent’s SureSelect Human All Exon V5 exome capture kit and initial data shows greatly improved coverage of disease-relevant genes. This assay will be further enhanced by filling in problematic regions using alternate methods. Additional features of this exome design that are of interest for clinical research sequencing laboratories are ancestry- and identity-informative marker panels that enable better sample tracking and provide increased confidence in data reporting.

 

HaloPlex
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HaloPlex

Get Complete Target Enrichment in Less than a Day with Agilent HaloPlex


HaloPlex™ Target Enrichment System enables fast, simple and efficient analysis of genomic regions of interest in a large number of samples. Custom designs, of panels containing thousands of exons, are easy to create with our Design Wizard.

By combining single-tube target amplification and removing the need for library preparation, the total sample preparation time and cost is reduced without the need for dedicated instrumentation or automation. The availability of 96 indexes and compatibility with different desktop sequencing and high-throughput platforms provide you the flexibility you need to run your experiments.

 

ClearSeq Inherited Disease
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ClearSeq Inherited Disease

Effective Recognition of Inherited Disease by Computational Phenotype Analysis and Targeted Next Generation Sequencing


Dr.Tomasz Zemojtel
, Head of NGS Diagnostics Institute for Medical and Human Genetics, Charité Vivantes GmbH

Less than half of individuals presenting with suspected genetic disease receive an etiological diagnosis. Though next-generation sequencing (NGS), and in particular whole exome sequencing (WES), has enabled an unprecedented acceleration in the pace of Mendelian disease gene discovery, extensive challenges remain to integrate NGS, bioinformatics, and clinical data into effective workflows.

 

SureSelectQXT
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SureSelectQXT

Breaking Barriers in Clinical Research Sequencing


Maria Celeste Ramirez, Ph.D.
, Global Product Manager, NGA

Michael Borns, R&D Scientist, Agilent

Uncompromised performance from a fast streamlined low input workflow, now available for automation

 

For Research Use Only. Not for use in diagnostic procedures.