Advancements in Genomics and Next Generation Sequencing - Genetics 6

Question 1

Human Genome Project

Answer 1

Public collaboration mapping human DNA sequence.

Question 2

Next Generation Sequencing (NGS)

Answer 2

Revolutionary method for rapid genome sequencing.
* Sequences whole genomes in short segments “reads”
* Sequences 100 millions of these reads in parallel (MASSIVELY PARALLEL).
* This means seqeuncing happens in tandem lot - many fragments are sequenced at the same time, reducing cost (HIGH THROUGHPUT)

It is called “sequencing by synthesis”

Question 3

How does sequencing by synthesis work?

Answer 3

Extract DNA of organism to be sequenced and split into small pieces using restriction enzymes. Separate these into single strands and introduce may oligonucleotides which stick to flow cell, immobilising the DNA fragments. These are locally amplified to form a cluster. Different colours lighting up are asosciated with each base. A machine sees the colours flashing as each bit of DNA is read and sequences them in parallel.

Question 4

Oligonucleotide

Answer 4

Short synthetic strand of DNA or RNA that is used in a variety of molecular biology applications

Question 5

Massively Parallel Sequencing

Answer 5

Sequences millions of DNA reads simultaneously.

Question 6

High Throughput

Answer 6

Rapid sequencing at significantly reduced costs.

Question 7

Illumina Technology

Answer 7

Uses sequencing by synthesis for DNA analysis.

Question 8

Template DNA

Answer 8

DNA immobilized on flow cell for sequencing.

Question 9

Cluster Amplification

Answer 9

Locally amplifies DNA to form sequencing clusters.

Question 10

Precision Oncology

Answer 10

Tailored cancer treatment based on genomic data due to genetic analysis of individuals.

Question 11

Paleogenomics

Answer 11

Studies ancient genomes to trace origins of human evolution.

Question 12

Svante Pääbo

Answer 12

Nobel laureate for paleogenomics discoveries.

Question 13

Biodiversity Genomics

Answer 13

Aims to sequence genomes of all known species.

Question 14

Comparative Genomics

Answer 14

Compares genomes to understand evolutionary relationships.

Question 15

Phylogenetic Trees

Answer 15

An application of genetic sequencing. Diagrams showing evolutionary relationships among species.

Question 16

100,000 Genomes Project

Answer 16

Genomes of poeople suffering who’ve been concluded as psychosomatic (ailment caused by mental stress) were analysed revealing 25% had a genetic diagnosis. It also analysed 3 new genes associated with disases and 19 associated genes (increase ir decrease expression level of other genes asosciated with disease).

Question 17

SARS-CoV-2 Sequencing

Answer 17

An application of genetic sequencing. Genomic analysis of the coronavirus outbreak.

Question 18

Ethnic Bias

Answer 18

Disparities in ethnic genomic sequencing. Also caused by a lack of availability of sequencing technology in certain countries.

Question 19

Ethnic Bias

Answer 19

Underrepresentation in genomic databases like gnomAD.

Question 20

Nanopore Sequencing

Answer 20

Portable sequencing technology for real-time analysis that can be taken anywhere.
* Around £600 (cheap)
* Relatively simple to prep samples and sequence

Question 21

How does nanopore sequencing work

Answer 21

DNA moves through pore, causing ionic changes in charge that give a signiture which is read. Each bases shape and size take slightly different amounts of time moving through the time causing the slight changes in ionic charges.

Question 22

Ebola Monitoring

Answer 22

Nanopore sequencing used to track Ebola virus evolution.

Question 23

Genome Aggregation Database (gnomAD)

Answer 23

Contains 141,465 human genomes for research.