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Intro
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Classroom Contents
Basics of Exome Sequencing - Genetics 101 - Ambry Genetics
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- 1 Intro
- 2 Disclosures/ Conflict of Interest
- 3 Sequencing & Alignment
- 4 Alignment of Reads
- 5 "Raw data" file types
- 6 Coverage Metrics
- 7 What types of alterations are not reliably detected on exome?
- 8 Data Filtering Lab dependent Computational filtering
- 9 Inheritance Filtering
- 10 Importance of good phenotypic data
- 11 The ACMG recommends exome sequencing for the following indications
- 12 Clinical Indications
- 13 What Makes Exome Unique?
- 14 Exome's ability to detect multiple diagnoses
- 15 Multiple Diagnosis Rate Predictions
- 16 Tool for Gene Discovery Exome has increased the rate of gene characterization
- 17 Exome in Gene Discovery
- 18 Panel vs. Exome vs. Genome Gene Panels
- 19 Case Example 1 (cont.)
- 20 Case Example 2: Results Exome analysis revealed 2 de novo alterations - Two distinct diagnoses that account for the patient's full phenotype Unlikely that these would be present on the same gene panel
