University:
University of Virginia
Course:
BIOL 1040 | The DNA Revolution in Science and Society
Academic year:

2024
Views:

104

Pages:

2
Author:

Kayli N.

First Human Genome ● Challenges: coverage of more data, genome assembly for complex and repetitive to understand how genomes differ in structure (ex. Insertions/deletions/ rearrangements), speed/mobility Current Solutions Illumina Technology: like Sanger in extending sequence but no gel or tube ● 2-dimensional flat surface that is along a Flow Cell ● Unknown DNA with known bits at the end to allow DNA to anneal to surface ● The adaptors fold off and onto themselves ● A PCR like process (bridge amplification) that generates 2 copies of each over and over to create clusters of identical fragments on a chip ○ The different clusters represent different parts of our genome ● Sanger-like process to sequence by synthesis to extend the strand, each cluster flashes a fluorescent signal based on its base pair when attached ● Cheaper and more accurate, can sequence lots of DNA Oxford Nanopore: ● protein nanopore (living molecule) in bilayer that has nanopores on top that detects if a polar molecule flows through a pore from current/receptor ● Takes a single strand of DNA and runs it through the pore, simultaneous recording its charge//pH that corresponds to a specific base AT CG ● PROS: can sequence long chains of DNA & many platforms and mobile ● CONS: expensive and inaccurate from errors of lots of passing DNA ● Ex. Can be used to sequence for covid/infectious diseases Over time, sequencing DNA has had an exponential growth due to cost and efficiency Fast DNA sequencing techniques can help diagnose patients quickly ● Genomic screening on newborns for rare diseases, currently do for healthy newborns but only for a small segment ○ Ex. Reuben Tanaka with N&V with no dx but was detected a genetic change of CSP1 that couldn’t break down nitrogen so had toxic ammonia levels Metagenomics: study of the microbiome (microorganisms) ● Detection of rare genetic disorders, real time genomics of pathogens/disease ● Personalized genomics services ● Data storage and recovery using DNA as information molecule ● ● ● ● Cancer progression/evolution in the body genetic diversity w/traits/diseases Sequencing mRNA to study gene expression Reconstruct evolutionary history Take Home Messages ● Human genome project took 13 years and $1 billion dollars to complete nd ● 2 generation platforms allow more sequence data in longer strengths for less money in faster and smaller instruments. Genomics is cheaper/mini ● Illumina is the gold standard for massively parallel, inexpensive, short accurate sequencing reads ● Several other platforms want long reads, rapid turnaround and mini-instruments ex oxford nanopore which are essential for applications “in the field” ● 2 nd rd and 3 generation sequencing platforms are opening many

First Human Genome

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