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
What are pseudogenes
DNA sequences similar to functional genes but have been inactivated by mutations, some have developed new functions
What are processed pseudogenes
a result of the process of retrotransposition in which a portion of mRNA is spontaneously reverse transcribed back into DNA and inserted into chromosomal DNA.
Post-transcriptional modifications
the process in eukaryotic cells where primary transcript RNA is converted into mature RNA (5’ capping, polyadenylation, splicing)
Post-translational modifications
The covalent and generally enzymatic modification of proteins following protein biosynthesis
Alternative splicing
A process that creates proteins containing amino acid sequences encoded by different combinations of exons of genes
RNA editing
Alteration of the nucleotide sequence of mRNA in between transcription and translation
What are transposons
DNA sequences that can change positions within a genome
What are retrotransposons
Self-amplifying sequences in genomes derived from reverse transcription
Priori Method
Seek to recognize sequence patterns within expressed gees ad the regions flanking them.
Been there seen that method
Recognize regions corresponding to previously known genes, from the similarity of their translated amino acid sequences to known proteins in another species
