Algorithm: Step-by-step procedure that includes decision-free approaches to healthcare treatment (ex: if symptoms A, B, and C are evident, then use treatment X) and also less clear-cut tools aimed at reducing or defining uncertainty


Allele: Alternate form of a gene or DNA Sequence.


Annotation: Adding pertinent information such as ‘gene coded for,’ ‘amino acid sequence,’ or other commentary to the database entry of raw sequence DNA bases.


Biobank: A type of biorepository that stores biological samples (usually human) for use in research.


Bioinformatics: The collection, classification, storage, and analysis of biochemical and biological information using computers, especially as applied to molecular genetics and genomics.


Biorepository: A biological materials repository that collects, processes, stores, and distributes biospecimens to support future scientific investigation.


Chromosome: Structures found in the center (nucleus) of cells that carry long pieces of DNA.


CPT Code: (Current Procedural Terminology) codes are numbers assigned to every task and service a medical practitioner may provide to a patient including medical, surgical, and diagnostic services. They are then used by insurers to determine the amount of reimbursement that a practitioner will receive by an insurer when he or she performs that service.


EMR: (Electronic Medical Record) databases that contain the standard medical and clinical data gathered by medical care providers.


Exome: The segment of the human genome formed by exons. The portions of a gene or genome that code information for protein synthesis.


Genome: An organism’s complete set of DNA, including all of its genes. Each genome contains all of the information needed to build and maintain that organism. In humans, a copy of the entire genome is contained in all cells that have a nucleus.


Genome-wide-association Study (GWAS): An approach that involves rapidly scanning markers across the complete sets of DNA, or genomes, of many people to find genetic variations associated with a particular disease. Once new genetic associations are identified, researchers can use the information to develop better strategies to detect, treat and prevent the disease.


Genomics: The study of genes and their functions. Genomics aims to understand the structure of the genome, including the mapping of genes and sequencing of DNA. Genomics examines the molecular mechanisms and the interplay of genetic and environmental factors in disease.


Genotype:The internally coded, inheritable information carried by all living organisms.


Genotype-Phenotype Associations: The association between the presence of a certain mutation or mutations (genotype) and the resulting physical trait, abnormality, or pattern of abnormalities (phenotype).


Genotyping: Testing that reveals the specific alleles inherited by an individual; particularly useful for situations in which more than one genotypic combination can produce the same clinical presentation, as in the ABO blood group, where both the AO and AA genotypes yield type A blood.


Haplotype: The combination of linked marker alleles (may be polymorphisms or mutations) for a given region of DNA on a single chromosome.


Heterogeneous: Composed of parts of different kinds.


Homogeneous: Composed of parts or elements that are all of the same kind.


ICD-9-CM: (The International Classification of Diseases, Ninth Revision, Clinical Modification) the official system of assigning codes to diagnoses and procedures associated with hospital utilization in the United States.


Locus (loci): The physical site on a chromosome occupied by a particular gene or other identifiable DNA sequence characteristic


Natural Language Processing: (NLP) is a branch of artificial intelligence that deal with analyzing, understanding and generating the languages that humans use naturally in order to interface with computers in both written and spoken contexts using natural human languages instead of computer languages.


Personalized (Precision) Medicine: Tailoring of medical treatment to the individual characteristics, needs, and preferences of a patient during all stages of care, including prevention, diagnosis, treatment, and follow-up. ‘The right patient with the right drug at the right dose at the right time.’


Pharmacogenomics: The study of how a person’s genes affect the way he or she responds to drugs. It is being used to learn ahead of time what the best drug or the best dose of a drug will be for a person.


Phenotype: The outward, physical manifestation of an organism.


Phenotyping: The study of an organism’s observable characteristics and traits to make genetic associations with the goal of discovering links between genes and diseases.


SNP: (Single Nucleotide Polymorphism) is a variation at a single position in a DNA sequence among individuals.