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NGS Diagnostic Panels - Coggle Diagram
NGS Diagnostic Panels
Describe main NGS approaches used for detection of constitutional (inherited) variants
Whole Genome Sequencing (WGS)
Covers most of genome (~ 95% to 20x on an average of 30x)
Data quality - PCR free
Cost - $1800 for data only, up to $6400 for full interpretation
Huge data handling & storage requirements
Whole Exome Sequencing (WES)
Covers most of protein coding genes (~95% to 20x on an average of 100x)
Data available for re-interrogation as new disease gene associations are identified
Cost: $500 - $1000 for data only, $1800 - $3000 for full interpretation
Significant data handling & storage requirements
Disease-Specific Gene Panel Sequencing
Covers known disease associated gene (~99% to 20x on an average of 500x)
Cost - $1100 (data only ~$500)
Data handling & storage requirements modest - highest sample throughput
Incidental/additional/off target findings minimised
Outline major technical advantages & disadvantages of each approach
Outline why phenotype-specific gene panels are preferred option in routine diagnostic work
Outline clinical utility of NGS diagnosis for inherited disease