Genomics, data science and bioinformatics Flashcards
(12 cards)
Big data
datasets whose
size is beyond the ability of typical
database software tools to capture,
store, manage and analyse
what is artificial intelligence ?
a range of techniques that allow computers to perform tasks typically thought to require human reasoning and problem-solving skills
what is the 100 000 genome project?
A British initiative to sequence and study the role our genes play in health and disease.
Definition: Penetrance
Measures the proportion of people who carry a specific gene and express the related trait
Definition: Genetics
-The study of heredity
- The study of the function and composition of single genes
Definition: Genomics
-The study of an organism’s complete set of genetic information
-Includes both genes (coding) and non-coding DNA
DdNTP
-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
Polymorphism
The presence of two or more variant forms of a specific DNA sequence that can occur among different individuals or populations
Manhattan plot
used in genome-wide association studies (GWAS) to display significant SNPs (Single nucleotide polymorphism)
Traditional vs modern Sanger Sequencing
Trad:
-Can only sequence a single DNA fragment at a time
Mod:
-Can sequence millions of sequences simultaneously
Genetic mapping
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
Physical mapping
Order or physical distance between DNA base pairs on a chromosome