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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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