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Summary All the terms asked in previous exam papers

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All the terms asked in previous exam papers with answers

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  • December 26, 2020
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  • 2020/2021
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Alternative splicing vs RNA editing. (2 )

 Alternative splicing – a mechanism of forming a mature mRNA molecule from different
choices of exons from a gene, but always in the order that they appear in the genome.
 RNA editing – a mechanism of producing more than one protein sequence from a single
transcript by altering nucleotides in the transcript sequence itself.

Linkage vs linkage disequilibrium (LD) . (2 )

 Linkage – a phenomenon that entails analyzing the distribution of genes or loci along
chromosomes.
 Linkage Disequilibrium – a phenomenon that entails measuring the distribution of allelic
patterns in populations.

Single-end read vs paired-end read. (2 )

 Single-end read – determination of the nucleotide sequence from only one end of a
template DNA molecule.
 Paired-end read – determination of the nucleotide sequence from both ends of a template
DNA molecule (with numerous undetermined bases between the reads that is known only
approximately)

Pseudogenes vs processed pseudogenes. (2 )

 Pseudogenes – degenerate gene regions that have mutated so far from the original
 gene sequences that the polypeptide they encode will not be functional.
 Processed pseudogenes – degenerate gene regions that, in addition to having mutations,
resemble mRNAs by lacking introns and promoters, and thus, they are not expressed.

What is a haplotype? (1)

 Clusters of SNPs that appear to be inherited in tandem are called haplotypes. Haplotypes are
local combinations of genetic polymorphisms that tend to be co-inherited.

1. De novo sequencing (1) vs. resequencing (1)

 De novo sequencing is the determination of a full-genome sequence without using a known
reference sequence from an individual of the species to avoid the assembly step.
 Resequencing is the determination of the sequence of an individual of a species for which a
reference genome sequence is known. The assembly process is replaced by mapping the
fragmentsonto the reference genome.

2. Paired-end reads (1) vs. read length (1)

 A paired-end read is a technique in which the sequence is reported from both ends of a
fragment (with a number of undetermined bases between the reads that is known only
approximately).
 The read length is the number of bases reported from a single experiment on a single
fragment.




3. Sequence coverage (1) vs. assembly (1)

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