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15 Cards in this Set

  • Front
  • Back
genome
complete genetic material of an organism
genomics
sequencing, assembling, and analysing genomes
whole genome sequencing identifies:
genes, sequence, number, regulatory elements, non-protein coding RNA genes
sanger sequencing
ddNTPs terminate sequence early, run PCR and gel electrophoresis
sanger pros
accurate, long reads
sanger cons
expensive, low output
whole genome sequencing/shotgun
genome cut up, cloned + amplified, sequenced by computer
illumina
fix DNA onto bead + place in flow cell, add dNTPs with reversible blocking groups
illumina pros
accurate, cheap, high output
illumina cons
short reads
oxford nanopore
run DNA through alpha-hemolysin (bacterial transmembrane protein)
oxford nanopore pros
very long reads, cheap
oxford nanopore cons
high error rate
SNPs as markers
tend to be inherited with disease causing genes nearby
genome wide association studies
if 1 variant if more frequent at a locus it is considered associated