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#Exome Sequencing

Showing: 13 courses
Ambry Genetics

Bioinformatics and Computational Terminology for the Clinic - Webinar - Ambry Genetics

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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.
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20 Lesons
55 minutes
On-Demand
Free-Video
Ambry Genetics

Exome Sequencing for Congenital Anomalies or Neurodevelopmental Disorders - Webinar - Ambry Genetics

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Explore exome sequencing for congenital anomalies and neurodevelopmental disorders, comparing testing methods, discussing clinical implementation, and examining diagnostic yields for various patient populations.
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12 Lesons
55 minutes
On-Demand
Free-Video
Ambry Genetics

Basics of Exome Sequencing - Genetics 101 - Ambry Genetics

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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.
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20 Lesons
54 minutes
On-Demand
Free-Video
Paul G. Allen School

Probabilistic Models for RNA Splicing Analysis

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Exploring probabilistic models for RNA-seq data analysis, focusing on alternative splicing quantification and predicting splicing from DNA sequence to improve rare variant interpretation.
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1 Lesons
1 hour 2 minutes
On-Demand
Free-Video
Ambry Genetics

Exome Sequencing for Prenatal Indications

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Explore recent developments in prenatal exome sequencing, including technical challenges, diagnostic considerations, and expanded indications for fetal anomalies and pregnancy-related findings.
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1 Lesons
58 minutes
On-Demand
Free-Video
Ambry Genetics

Testing Your Patient - DTC vs Single Gene vs Panel vs Exome

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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.
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1 Lesons
54 minutes
On-Demand
Free-Video
Ambry Genetics

Exome Testing - An Evidence-Based Approach to Accurate Diagnosis

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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.
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1 Lesons
56 minutes
On-Demand
Free-Video
Ambry Genetics

Clinical Diagnostic Exome Sequencing - Addressing Clinical Utility and Cost-Effectiveness

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Explore clinical diagnostic exome sequencing's utility and cost-effectiveness with experts discussing its role in the diagnostic process and impact on patient care.
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1 Lesons
41 minutes
On-Demand
Free-Video
Ambry Genetics

Clinical and Management Implications of Exome Sequencing

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Explore the clinical and management implications of diagnostic exome sequencing, examining current scientific evidence and its impact on genetic testing practices.
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1 Lesons
1 hour 2 minutes
On-Demand
Free-Video
Ambry Genetics

Utilizing Exome Sequencing in Pediatric and Neonatal Clinical Settings

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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.
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1 Lesons
1 hour 6 minutes
On-Demand
Free-Video
Labroots

Racial Disparities in Genomic Data Quality in Cancer - Impact and Potential Mitigation

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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.
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1 Lesons
24 minutes
On-Demand
Free-Video
Integrated DNA Technologies (IDT)

Pan-Cancer Pharmacogenetics: Targeted Sequencing Panels vs Exome Sequencing

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Explore advantages of xGen Exome Panel for pan-cancer pharmacogenetics studies, comparing it to targeted panel solutions and examining variant-drug interactions.
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6 Lesons
14 minutes
On-Demand
Free-Video
Computational Genomics Summer Institute CGSI

Characterization of Genomic Structural Variation Using Various Sequencing Technologies

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Explore genomic structural variation analysis using diverse sequencing technologies. Learn about copy number variation genotyping and deep learning applications in exome sequencing.
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1 Lesons
54 minutes
On-Demand
Free-Video