Lecture 14 (Genome Variation) Flashcards
why is finding variation complicated?
we need the right marker.
how’s variation caused?
mainly due to errors of DNAP
most common forms of variations
SNP insertions deletions transversions transitions microsatellitesn
what’s a hap map?
The International HapMap Project was an organization that aimed to develop a haplotype map (HapMap) of the human genome, to describe the common patterns of human genetic variation. HapMap is used to find genetic variants affecting health, disease and responses to drugs and environmental factors.
what are common SNPs?
those which each allele occur at least in 1% of the population
aim of hap map?
create a haplotype map
what are haplotypes¿
specific groups of genes inherited by one parent (the frequency varies)
what’s the % of similarity bt two people?
99.5%
What are the two main technologies used by HapMap?
HTS
- illumina
- affymetrix
what does affymetrix use to detect bp differences?
hybridization stringency and DNA chips (microarraus)
how many samples can normal affymetrix do?
1 sample
what does axiom use?
ligation and plates
how many samples can axiom do?
96 samples
what does illumine use?
primer extension
what are GWAS?
do illumina in imdv with a disease and find an association with a SNP by doing comparisons
