BIOL2301 Genetics and Molecular Biology - Genome Annotation

Flashcards on Genome Annotation, covering DNA sequencing, gene finding methods, and genetic polymorphisms.

Central dogma (DNA → RNA → Protein)

Explains how four bases can code for all proteins in our body

DNA homology

DNA sequences that have similar nucleotide sequences because they were derived from a common ancestor

Conserved sequences

Homologous sequences of DNA that are found in the genomes of different species

Reverse transcriptase

Enzyme that can transform RNA into DNA

cDNA (complementary DNA)

A DNA copy of an RNA molecule made by the enzyme reverse transcriptase.

Polymerase Chain Reaction (PCR)

Allows amplifying a specific fragment of DNA

High-throughput sequencing

Simultaneous sequencing of millions of random fragments of DNA; longer sequences are assembled based on overlaps, using bioinformatics.

Anonymous DNA polymorphisms/DNA markers

DNA polymorphisms that do not affect phenotype but can be used to track specific regions of the genome

Nonanonymous DNA polymorphisms

DNA polymorphisms that do affect phenotype by altering gene function

DNA polymorphisms

Sequence differences between individual genomes within a species.

SNP

Single nucleotide polymorphism

DIP or InDel

Insertion/deletion

SSR

Simple sequence repeat

CNV

Copy number variant

Gene-rich regions

Chromosomal regions that have many more genes than expected from average gene density over entire genome

Gene deserts

Regions that have no identifiable genes

Open Reading Frame (ORF)

A sequence of adjacent nucleotides where, beginning from a specific starting point, triplets are uninterrupted by a stop codon which often signals the presence of a gene