Date published 
March 2013

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Advances in Clinical Genome Sequencing and Diagnostics - Tables and Figures


Author: Kevin Davies, PhD 


Figure 1.1. Filtration Decision Tree for Genomic Variants

Figure 2.1. GeneDx Letter for Pre-Authorization (Edited)

Figure 3.1. The Rapidly Falling Cost of Genome Sequencing 


Figure 4.1. What Type of Lab Do You Work In? 

Figure 4.2. Is Your Facility CLIA-Certified?

Figure 4.3. Is Your Facility CAP-Certified?

Figure 4.4. Where Is Your Facility Located?

Figure 4.5. Which Sequencing Instruments Do You Use and How Many of Each Do You Have?

Figure 4.6. Have You Outsourced To Any Sequencing Provider?

Figure 4.7. Which Sequencing Providers Have You Used?

Figure 4.8. What Is the Primary Sequencing Work Done In Your Lab?

Figure 4.9. Are You Considering Purchasing Any New Sequencing Equipment In the Next 12 Months?

Figure 4.10. Which Sequencing Platforms Are You Considering Purchasing and How Many?

Figure 4.11. What Type of Commercial Mapping/Assembly/Variant Caller Platform Do You Mostly Use?

Figure 4.12. What Other NGS Software/Platforms Do You Principally Use?

Figure 4.13. What Software Do You Use for Medical Genome Interpretation?

Figure 4.14. What Would You Estimate the Cost of Delivering a Medical-Grade Genome to Be?

Figure 4.15. What Do You Consider the Biggest Challenge In Integrating Whole-Genome Sequencing Into The Clinic?

Figure 4.16. Do You Have Any Experience Storing or Analyzing NGS Data In the Cloud?

Figure 4.17. Would You Put Clinical Data In the Cloud? 


Table 1.1. Proof-of-Concept Identification of Mutation in Freeman-Sheldon Syndrome Exomes

Table 1.2. Companies Applying NGS Toward Cancer Diagnostics and Treatment 

Table 3.1. Projected Sequence Throughput for Ion Proton Chips 

Table 3.2. Potential Advantages of Nanopore Sequencing

Table 3.3. Comparison of HugeSeq to Other Genome Analysis Platforms

Table 3.4. Categorization of Clinical Variants by InVitae

Table 3.5. The CLARITY Challenge Contestants and Finalists