Definitions Flashcards
What is a open reading frame
A region of a genome that codes for a protein
What is a single nucleotide polymorphism
substitution mutations at single sites (affects one nucloetide)
What is a haplotype
A group of closely-linked genes that tend to be inherited as a block
What is CRISPR/Cas
A defense mechanism against viral infection in prokaryotes, developed as a powerful laboratory tool for genome editing used in eukaryotes, including humans
What is a read length
The number of consecutive nucleotides determined in a single sequence determination
What is a contig
The result of merging the sequence of fragments to form a long connected region
What is a sequence assembly
Aligning and merging fragments from a longer DNA sequence in order to reconstruct the original sequence
What is a sequence coverage
It is the number of reads that include a given nucleotide in the reconstructed sequence
Single-end read
Sequencing DNA from only one end
Paired-end read
Sequencing DNA fragments from both ends
De novo sequencing
Determining the complete sequence of the first genome from a species
Re-sequencing
determining the genomic variations of a sample in relation to a common reference sequence
Exome sequencing
A genomic technique for sequencing all of the protein-coding genes in a genome
Gene duplication
A major mechanism through which new genetic material is generated during molecular evolution. It can be defined as any duplication of a region of DNA that contains a gene
Gene divergence
The process in which 2 or more populations of an ancestral species accumulate independent genetic changes through time, often after reproductive isolation