Genomics in Modern Medicine Flashcards
what is next generation sequencing
technologies that permit rapid interrogation of DNA, up to and including entire genomes via massively parallel sequencing
what is the prevalence of common single nucleotide variants and rare single nucleotide variants? and what are they
- Common: greater than 1% of population- can be advantageous, silent, risk associated
- rare ones are less than 1% of population- can be advantageous, silent, risk associated and pathogenic
single nucleotide variants account for about ____ of all DNA changes
75%
single nucleotide variants are found in about 1 in every _____ nucleotides
100 to 300 nucleotides
describe insertion and deletion mutations
occur from 50-100 nucleotides
how often do insertion deletion mutations occur compared to single nucleotide variants
1/10th as often
90% of insertion deletion mutations are ____ nucleotides in length
1-10
Describe CNV mutations
least frequent but large so affect the most nucleotides
what is the purpose of library prep for NGS
add primers and barcodes to identify individuals
what does library prep for NGS involve
fragmenting DNA called shotgun sequencing
what is sanger PCR
gene by gene, exon by exon sequencing
how many base pairs are in the human genoe
3.2 bilion
how many nucelotides are in the human genome
6.4 billion
______ genes (1-2% of genome) which encode _____ proteins
19,000; 100,000
in a completed library, each DNA fragment has:
-sequencing primer
-adapters
-barcode
