Page 78 - Clinical Biochemistry
P. 78
Figure 49: Variations of SNP by microaaray
ATCGAAATGCATGACCTTTGATATGATCGGC TGCAGTCAGC
TTCGAAGTGCATGACTTTTGACATGAGCGGCGGCCCACAGC
Common Variation Rare Variation No Recorded Variation
The Technology: Deep Sequencing
• Captures every base pair in the genome (3,000,000,000).
• (Currently) low throughput (slow).
• (Currently) Very expensive.
• Captures common, rare, and personal variation.
• New and hard to analyze
Figure 50: Sequencer
Sequencer
Figure 51: Variations of SNP by sequencer
ATCGAAATGCATGACCTTTGATATGATCGGC TGCAGTCAGC
TTCGAAGTGCATGACTTTTGACATGAGCGGCGGCCCACAGC
Common Variation Rare Variation No Recorded Variation
Cost of NGS
Innovations in chemistry, optics, fluidics computational hardware, and bioinformatics solutions
