CH 14 - Genomes

Vocabulary flashcards covering genomic medicine terminology, genome mapping techniques, sequencing approaches, and noncoding DNA elements based on lecture notes.

Genomic Medicine

Defined by the National Human Genome Research Institute as an interdisciplinary medical specialty involving the use of genomic information.

Geneticist H. Winkler

Coined the term genome in $1920$ to denote a complete set of chromosomes and genes.

Cytogenetic Map

Based on associations between atypical chromosomes and syndromes and can distinguish DNA sequences at least $5,000\,\text{kilobases}$ apart.

Linkage Map

Derived from recombination data and distinguishes genes hundreds of kilobases apart.

Physical Map

Constructed from overlapping DNA pieces and distinguishes genes tens of kilobases apart.

Sequence Map

Depicts the order of nucleotide bases.

Positional Cloning

Process where researchers match single genes to specific diseases.

Expressed Sequence Tag (EST)

Short DNA molecules that are made from mRNAs in a cell type that is abnormal in a particular illness.

Shotgun Approach to Whole Genome Sequencing

Overlapped DNA pieces cut from several copies of the genome are then assembled into the overall sequence.

Reference Genome Sequences

Attempt to account for diversity by displaying the most common base among many genomes at each point.

Human Pangenome

A complete reference of human genome diversity.

Genome Graphs

A depiction of the human pangenome, showing haplotypes, sequences, SNPs, CNVs, structural variants, and other types of information.

Euchromatin Significance

The chromosomal area where most protein-encoding genes are located.

Retroviruses

A virus that has RNA as its genetic material and uses reverse transcriptase to make a DNA copy.

Reverse Transcriptase

The enzyme that a retrovirus uses to make a DNA copy.

Human Endogenous Retroviruses (HERVs)

Retroviruses whose genetic material is in our chromosomes, likely from ancestors that were infected about $5$ million years ago.

Pseudogenes

Noncoding RNAs that are very similar in sequence to mRNAs that encode protein.

Long Noncoding RNAs

An RNA that associates with chromatin and controls gene expression.

Transposon (Transposable Element)

A jumping gene, comprises $45\%$ of the human genome.

Retrotransposon

A transposon that goes through the intermediate stage as RNA and uses reverse transcriptase to multiply.

Alu Sequence

A specific type of repeat that regulates the expression of neighboring genes in a tissue-specific manner.

$$1.5\%$$

Percentage of human genome that encodes protein.

Synthetic Biology

Seeks to create a combination of biochemicals that resembles a living organism or part of one.

Clone-by-Clone Technique

A method that aligned DNA pieces one chromosome at a time.

Whole-Genome Shotgun Approach

Shattered the entire genome, then used an algorithm to identify and align overlaps in a continuous sequence.