Bioinformatics Flashcards
What do SNP arrays measure?
Known, common SNPs - Genetics
What type of mutation (silent, nonsense, missense) is sickle cell anaemia
Non-conservative missense
What is a manhatton plot used for
Genome wide association studies (GWAS)
What does Sanger sequencing measure
can identify new or novel mutations
however, small scale
What do whole genome and whole exome sequencing measure
can identify brand new mutations like sanger sequencing, but on a genome-wide scale
Whole exome sequencing more cost-effective but limited to protein coding region
What is RNA sequencing used for?
To measure the influence of disease or the environment on a given sample
e.g. Cigarette smoke exposure