Genomics, data science and bioinformatics

Question 1

Big data

Answer 1

datasets whose
size is beyond the ability of typical
database software tools to capture,
store, manage and analyse

Question 2

what is artificial intelligence ?

Answer 2

a range of techniques that allow computers to perform tasks typically thought to require human reasoning and problem-solving skills

Question 3

what is the 100 000 genome project?

Answer 3

A British initiative to sequence and study the role our genes play in health and disease.

Question 4

Definition: Penetrance

Answer 4

Measures the proportion of people who carry a specific gene and express the related trait

Question 5

Definition: Genetics

Answer 5

-The study of heredity
- The study of the function and composition of single genes

Question 6

Definition: Genomics

Answer 6

-The study of an organism’s complete set of genetic information
-Includes both genes (coding) and non-coding DNA

Question 7

DdNTP

Answer 7

-Used in Sanger sequencing
-Are useful in the analysis of DNA’s structure as it stops polymerisation of DNA strand during replication
-Stops elongation of DNA sequence

Question 8

Polymorphism

Answer 8

The presence of two or more variant forms of a specific DNA sequence that can occur among different individuals or populations

Question 9

Manhattan plot

Answer 9

used in genome-wide association studies (GWAS) to display significant SNPs (Single nucleotide polymorphism)

Question 10

Traditional vs modern Sanger Sequencing

Answer 10

Trad:
-Can only sequence a single DNA fragment at a time
Mod:
-Can sequence millions of sequences simultaneously

Question 11

Genetic mapping

Answer 11

shows the relative location of genetic markers (reflecting sites of genomic variants) on a chromosome

example: can show evidence that a disease transmitted from parent to child is linked to one or more genes

Question 12

Physical mapping

Answer 12

Order or physical distance between DNA base pairs on a chromosome