Exam 1 Vocab Flashcards
file format used to represent aligned sequence data
SAM
blocks that range from 1 to 400 kb in length, occur at more than one site within the genome, and typically share a high level of (>90%) sequence identity
segmental duplications
illumina “next-generation” sequencer available
2007
short repetitive elements of ~100-500 bp that comprise ~11% of the human genome
SINES
Frederick Sanger develops a DNA sequencing technique
1977
James Watson, Francis Crick, Rosalind Franklin and Maurice Wilkins, discover the double helix structure of DNA
1953
distant element that regulates transcription
enhancer
sequence located near transcription start site generally required for any transcription to occur
promoter
a value used to represent the probability of an error in sequencing data
PHRED
a highly complex structure with several levels of organization and functions to compact DNA
chromatin
longer repetitive elements ~5-7kb in length and comprise ~17% of the human genome
LINES
used by the cell during cell division to make sure that each daughter cell gets a copy of each chromosome
centromere
have a net positive charge, thus bing to negatively charged DNA, 5 types
histones
Kary Mullis develops polymerase chain reaction (PCR) - a technique used for amplifying DNA
1983
short tandemly repeated sequences located at the ends of chromosomes
telomeres
file format used to represent mutations
VCF
Friedrich Miescher identified the presence of ‘nuclein’
1871
the term genomics first used in scientific literature
1987
the human genome project is launched
1990
the human genome project is finished
2003
