Ambry Genetics Courses

Illumina Sequencing Overview - Library Prep to Data Analysis

5 reviews

Comprehensive overview of Illumina sequencing workflow, covering library preparation, cluster generation, and sequencing by synthesis. Explores different chemistry versions and instrument developments for next-generation sequencing.

• YouTube
• 52 minutes
• On-Demand
• Free Video

New Directions in Access to Genetic Counseling Information for Precision Medicine - Webinar

1 review

Exploring digital tools for efficient dissemination of genetic counseling information in precision medicine, addressing challenges in access and timely updates for clinicians and patients.

• YouTube
• 49 minutes
• On-Demand
• Free Video

Translational Therapies for Epilepsy - Webinar - Ambry Genetics

1 review

Explore genetic diagnoses in epilepsy care, their impact on treatment options, and the latest advancements in precision medicine for various epilepsy syndromes.

• YouTube
• 49 minutes
• On-Demand
• Free Video

The Intricacies of Splicing and RNA Data in Germline Variant Classification

Explore RNA splicing's impact on protein function and disease, focusing on complexities in interpreting RNA data and its role in germline variant classification.

• YouTube
• 58 minutes
• On-Demand
• Free Video

Understanding COVID Testing and Prevention: View from a Primary Care Physician

Insights on COVID-19 testing and prevention from a Harvard-affiliated primary care physician, covering real-world experiences, vaccine information, and addressing audience questions.

• YouTube
• 1 hour
• On-Demand
• Free Video

Evaluating the Family After Sudden Death in the Young

Understand postmortem genetic testing and family evaluation after sudden cardiac death in young individuals. Learn about pathology, causes, and risk assessment for inherited cardiovascular diseases.

• YouTube
• 1 hour 1 minute
• On-Demand
• Free Video

Fostering Change: ACMG's New Diversity, Equity and Inclusion Committee

Explore ACMG's new DEI Committee initiatives to increase diversity in medical genetics, including mentorship programs, expanded participation, and long-term strategies for inclusivity.

• YouTube
• 59 minutes
• On-Demand
• Free Video

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.

• YouTube
• 58 minutes
• On-Demand
• Free Video

Quality in Genetic Testing Laboratories - Opening the Black Box

Explore quality measures for genetic testing accuracy and clinical utility, with case-based examples demonstrating their impact on next-generation sequencing panel testing.

• YouTube
• 52 minutes
• On-Demand
• Free Video

Improvements in Clinical Interpretation of Copy Number Variants (CNVs)

Explore advancements in clinical interpretation of Copy Number Variants (CNVs), addressing challenges and showcasing how unified guidelines can enhance consistency and quality in genomic diagnostics.

• YouTube
• 41 minutes
• On-Demand
• Free Video

Homologous Recombination Deficient Diagnosis and PARP Inhibitor Therapy

Explore genomic instability in cancer, focusing on HRD and PARP inhibitors. Learn about diagnostic approaches for identifying individuals with Homologous Recombination Deficiency.

• YouTube
• 56 minutes
• On-Demand
• Free Video

Genetic Testing in Adult Neurology Patients

Explore the utility and diagnostic yield of genetic testing in adult neurology patients, reviewing recent research findings and implications for clinical practice.

• YouTube
• 34 minutes
• On-Demand
• Free Video

Integrating Functional Studies into Variant Interpretation

Explore DNA and RNA functional data integration in ACMG classification, evaluating assay quality and weighting in variant interpretation, with insights from recent ClinGen SVI recommendations.

• YouTube
• 51 minutes
• On-Demand
• Free Video

Opportunistic Screening for Medically Actionable Secondary Genomic Findings

Explore communication and outcomes of medically actionable secondary genomic findings, identifying research gaps and opportunities for genetic counselors to enhance precision medicine approaches.

• YouTube
• 55 minutes
• On-Demand
• Free Video

Genetic Testing Results on Clinical Management for Lipid Patients

Explore genetic testing's impact on lipid patient management, focusing on Familial Hypercholesterolemia and Familial Chylomicronemia Syndrome. Learn from case studies and expert insights.

• YouTube
• 58 minutes
• On-Demand
• Free Video