Page 16 - My FlipBook

mitochondria: complex organelles of cells that convert energy from food into a
form that the cell can use. They have their own genetic material, separate from
the DNA in the nucleus, and can make copies of themselves.
mitosis: a type of cell division that results in two daughter cells each having
the same number and kind of chromosomes as the parent nucleus, typical of
ordinary tissue growth
mutation: a DNA variation that occurs in less than 1 percent of the population

next-generation sequencing (NGS): non-Sanger-based method used to determine
a portion of the nucleotide sequence of an individual’s genome. It is also called
massively parallel sequencing.

nucleotide: an organic molecule that is the building block of DNA and RNA
nucleus: an organelle in most eukaryote cells that contains DNA
pathogenic: capable of causing disease
patrilineal: based on the relationship to one’s father or male ancestors
pharmacogenomics: the study of how genes affect an individual’s response
to medications

phenotype: the set of observable characteristics of an individual resulting from
the interaction of its genotype with the environment; often refers to the clinical
features of a disease
polymorphism: a DNA variation that exists in more than 1 percent of
the population
protein: a string of amino acids linked by peptide bonds
recessive: expressed when two copies of the allele are present
Sanger sequencing: a low-throughput method used to determine a portion of the
nucleotide sequence of an individual’s genome
single nucleotide polymorphisms (SNPs): a variation in a nucleotide sequence
that occurs in more than 1 percent of the population. Some forms of SNPs are
associated with increased risk of disease.
trait: a specific characteristic of an organism

upregulate: to increase the expression of a gene
whole exome sequencing: a method to determine the DNA sequence variations
in exons of genes
whole genome sequencing: a method to determine the DNA sequence variations
of all regions of DNA, including both the exons and introns

128