Bioinformatics and Computational Terminology for the Clinic - Webinar - Ambry Genetics
Demystifying bioinformatics concepts in genetic testing reports, focusing on key terminology and underlying details for NGS panel and exome-sequencing tests to enhance clinicians' understanding and interpretation.
Exome Sequencing for Congenital Anomalies or Neurodevelopmental Disorders - Webinar - Ambry Genetics
Explore exome sequencing for congenital anomalies and neurodevelopmental disorders, comparing testing methods, discussing clinical implementation, and examining diagnostic yields for various patient populations.
Basics of Exome Sequencing - Genetics 101 - Ambry Genetics
Learn exome sequencing technology, lab processes, and applications. Explore data formats, variant filtering, gene-disease prioritization, and report structure. Gain insights into unique aspects and advantages of exome sequencing in genetic diagnostics.
Probabilistic Models for RNA Splicing Analysis
Exploring probabilistic models for RNA-seq data analysis, focusing on alternative splicing quantification and predicting splicing from DNA sequence to improve rare variant interpretation.
Exome Sequencing for Prenatal Indications
Explore recent developments in prenatal exome sequencing, including technical challenges, diagnostic considerations, and expanded indications for fetal anomalies and pregnancy-related findings.
Testing Your Patient - DTC vs Single Gene vs Panel vs Exome
Explore differences between direct-to-consumer and clinical genetic testing, learn when each is appropriate, and gain insights on advising patients about genetic test results.
Exome Testing - An Evidence-Based Approach to Accurate Diagnosis
Explore Ambry's evidence-based approach to clinical exome sequencing, including their proprietary scoring system for linking genes to diseases, leading to higher diagnostic yields and improved patient care.
Clinical Diagnostic Exome Sequencing - Addressing Clinical Utility and Cost-Effectiveness
Explore clinical diagnostic exome sequencing's utility and cost-effectiveness with experts discussing its role in the diagnostic process and impact on patient care.
Clinical and Management Implications of Exome Sequencing
Explore the clinical and management implications of diagnostic exome sequencing, examining current scientific evidence and its impact on genetic testing practices.
Utilizing Exome Sequencing in Pediatric and Neonatal Clinical Settings
Explore the clinical applications of diagnostic exome sequencing in pediatric and neonatal settings, focusing on Ambry's ExomeNext and ExomeNext-Rapid tools for improved patient care.
Racial Disparities in Genomic Data Quality in Cancer - Impact and Potential Mitigation
Explore racial disparities in cancer genomic data quality, their impact, and potential mitigation strategies. Gain insights into sequencing depth differences and their implications for cancer research and treatment.
Pan-Cancer Pharmacogenetics: Targeted Sequencing Panels vs Exome Sequencing
Explore advantages of xGen Exome Panel for pan-cancer pharmacogenetics studies, comparing it to targeted panel solutions and examining variant-drug interactions.
Characterization of Genomic Structural Variation Using Various Sequencing Technologies
Explore genomic structural variation analysis using diverse sequencing technologies. Learn about copy number variation genotyping and deep learning applications in exome sequencing.