Definitions Flashcards

1
Q

What is a open reading frame

A

A region of a genome that codes for a protein

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2
Q

What is a single nucleotide polymorphism

A

substitution mutations at single sites (affects one nucloetide)

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3
Q

What is a haplotype

A

A group of closely-linked genes that tend to be inherited as a block

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4
Q

What is CRISPR/Cas

A

A defense mechanism against viral infection in prokaryotes, developed as a powerful laboratory tool for genome editing used in eukaryotes, including humans

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5
Q

What is a read length

A

The number of consecutive nucleotides determined in a single sequence determination

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6
Q

What is a contig

A

The result of merging the sequence of fragments to form a long connected region

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7
Q

What is a sequence assembly

A

Aligning and merging fragments from a longer DNA sequence in order to reconstruct the original sequence

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8
Q

What is a sequence coverage

A

It is the number of reads that include a given nucleotide in the reconstructed sequence

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9
Q

Single-end read

A

Sequencing DNA from only one end

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10
Q

Paired-end read

A

Sequencing DNA fragments from both ends

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11
Q

De novo sequencing

A

Determining the complete sequence of the first genome from a species

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12
Q

Re-sequencing

A

determining the genomic variations of a sample in relation to a common reference sequence

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13
Q

Exome sequencing

A

A genomic technique for sequencing all of the protein-coding genes in a genome

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14
Q

Gene duplication

A

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

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15
Q

Gene divergence

A

The process in which 2 or more populations of an ancestral species accumulate independent genetic changes through time, often after reproductive isolation

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16
Q

What are pseudogenes

A

DNA sequences similar to functional genes but have been inactivated by mutations, some have developed new functions

17
Q

What are processed pseudogenes

A

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.

18
Q

Post-transcriptional modifications

A

the process in eukaryotic cells where primary transcript RNA is converted into mature RNA (5’ capping, polyadenylation, splicing)

19
Q

Post-translational modifications

A

The covalent and generally enzymatic modification of proteins following protein biosynthesis

20
Q

Alternative splicing

A

A process that creates proteins containing amino acid sequences encoded by different combinations of exons of genes

21
Q

RNA editing

A

Alteration of the nucleotide sequence of mRNA in between transcription and translation

22
Q

What are transposons

A

DNA sequences that can change positions within a genome

23
Q

What are retrotransposons

A

Self-amplifying sequences in genomes derived from reverse transcription

24
Q

Priori Method

A

Seek to recognize sequence patterns within expressed gees ad the regions flanking them.

25
Q

Been there seen that method

A

Recognize regions corresponding to previously known genes, from the similarity of their translated amino acid sequences to known proteins in another species