Next generation sequencing (NGS) technologies enable high-throughput sequencing and play an essential role in the operational implementation of personalized or precision medicine approaches.
ACE Augmentation Achieves High-Sensitivity for Clinical Applications Heather Wetzel, MS, LCGC discusses the recent publication in Genome Medicine entitled "Achieving high-sensitivity for clinical applications using augmented exome sequencing". Heather will review the results from this first ever comparison of an augmented exome sequencing approach (ACE Clinical Exome) to other standard exomes and whole [...]
AMP Webinar: Achieving High Diagnostic Yield for Clinically Relevant Genes Heather Wetzel, MS, LCGC discusses the recent publication in Genome Medicine entitled "Achieving highsensitivity for clinical applications using augmented exome sequencing". Heather discusses the results from this first ever comparison of an augmented exome sequencing approach (ACE Clinical Exome) to other standard exomes [...]
Next generation sequencing (NGS) is key for the implementation of personalized medicine into diagnostics. Most NGS diagnostics assays are developed as Laboratory Developed Test (LDTs).
Generating accurate HGVS nomenclature is dependent on successful execution of the following:
Clinical genomic testing requires the robust generation and identification of variant-level information in relation to disease.
Computational tools such as SIFT, PolyPhen and others provide in silico prediction of the pathogenicity of missense sequence variants based on sequence information.
Next-generation sequencing (NGS) is widely used in Exome Clinical Diagnostic Testing.
Targeted sequencing assays are increasingly used to identify tumor mutations that guide therapeutic decisions.
What is Genome-Guided Medicine? Dr. Deanna Church discusses the benefits of the Accuracy and Content Enhanced (ACE) technology by Personalis, Inc. - the provider of the most advanced genomic services for inherited disease and cancer.
