Genetic Security Glossary

Proposed site concepts

These three analytical concepts are proposed by GeneticSecurity.org; they are not external standards.

• Genetic Exposure Radius

  Scope of relational exposure

• Genetic Persistence Risk

  Durability after compromise

• Genetic Provenance Integrity

  Verifiability of the chain of custody

Genetic security foundations

• Genetic security

  The protection of genetic material, genomic information, genetic resources, and their supporting systems.

• Genomic cybersecurity

  The protection of computing systems, software, networks, and digital information used in genomic workflows.

• Kinship leakage

  Inference about a person or relationship enabled by genetic information belonging to a relative.

• Unintentional genetic disclosure

  Making biological material or genetic information accessible without intending to submit it for genetic analysis.

Genetics and interpretation

• Allele

  One version of a DNA sequence at a particular genomic location.

• Forensic genetic genealogy

  An investigative approach combining genetic-relative comparisons with genealogical research to develop identity leads.

• Genetic phenotyping

  Probabilistic inference of selected characteristics from genetic variation.

• Genotype

  The genetic variants an organism carries at one or more positions in its DNA.

• Haplotype

  A set of nearby DNA variants that occur together on a chromosome and may be inherited together.

• Phenotype

  An observable or measurable characteristic of an organism, shaped by genetic and environmental influences.

• Polygenic risk score (PRS)

  A statistical score combining information from many genomic variants associated with a particular condition or trait.

• Reference genome

  A genome assembly used as a coordinate system and comparison baseline for sequence analysis.

• Sequencing read

  A sequence of bases reported from a portion of genetic material by a sequencing workflow.

• Short tandem repeat (STR)

  A DNA region containing a short sequence repeated consecutively; the repeat count can vary between people.

• SNP

  A single-nucleotide polymorphism: a variation at a single nucleotide position in a genome.

• Variant calling

  The computational process of identifying candidate sequence differences from analyzed genomic data.

• Whole-genome sequencing

  A method for reading DNA across an organism's genome, rather than limiting analysis to a selected marker panel.

Laboratory records and integrity

• BAM

  The binary representation of the Sequence Alignment/Map format for sequence alignment records.

• Biobank

  An organized collection of biological specimens and associated information maintained for defined uses.

• Biospecimen

  A biological sample, such as blood, saliva, tissue, or cells, collected or retained for examination.

• Chain of custody

  A documented history of who collected, handled, transferred, stored, and received an item of evidence or a sample.

• Contamination

  The unintended introduction of material into a sample, reagent, or workflow.

• CRAM

  A compressed sequence alignment format supporting reference-based compression.

• FASTQ

  A text format commonly used to store sequence reads with per-base quality information.

• Genomic data

  Information describing genetic sequence, variation, or analytical outputs derived from genetic material.

• Laboratory information management system (LIMS)

  Software used to organize laboratory samples, workflow records, and associated information.

• Metadata

  Information describing a sample, dataset, file, or analytical process.

• Provenance

  The documented origin and history of an asset, including the transformations that produced its current form.

• Sample swap

  A mix-up that associates a specimen, file, or result with the wrong sample identity.

• VCF

  Variant Call Format: a text format for genetic variant sites and associated sample information.

Genetic resources and public health

• Accession

  A separately identified collection of material maintained as a distinct entry in a genetic-resource collection.

• Cryopreservation

  Preserving biological material at very low temperatures using methods suited to that material.

• Germplasm

  Genetic material maintained or used for reproduction, breeding, research, or conservation.

• Pathogen genomic surveillance

  The ongoing use of pathogen sequence data with other information to help monitor infectious organisms and their spread.

• Safety duplication

  Maintaining a backup of genetic-resource material in another suitable location to reduce the risk of losing the collection.

• Viability

  The capacity of stored biological material to remain alive and develop or function under suitable conditions.

Privacy and permissions

• Controlled access

  A sharing arrangement in which access is granted under specified eligibility, approval, and use conditions.

• Data minimization

  Limiting the information collected, used, shared, or retained to what a defined purpose requires.

• Data use agreement

  An agreement setting conditions for receiving, using, protecting, and sharing a dataset.

• De-identification

  Changing or removing information to reduce the ability to associate records with particular people.

• Informed consent

  A process through which a person receives understandable information and voluntarily decides whether to take part in a specified activity.

• Pseudonymization

  Replacing identifying labels with codes while preserving a means of reconnecting records to the original identities.

• Re-identification

  Associating a person with a record that was presented without a direct identifying label.

• Secondary use

  Using previously collected material or information for a purpose beyond the original activity for which it was obtained.

Security controls

• Access control

  Rules and mechanisms that determine who or what may use a resource and which actions are permitted.

• Audit trail

  A record of relevant actions and changes that can be examined to understand what happened in a system.

• Checksum

  A value calculated from data to help detect whether those data have changed.

• Encryption

  Transforming readable information into a form that requires appropriate cryptographic keys to recover it.

• Least privilege

  Giving a person or system only the permissions needed for its assigned work.

• Multi-factor authentication (MFA)

  Authentication that requires evidence from more than one distinct category of factor, such as something known and something possessed.

• Ransomware

  Malicious software used to restrict access to data or systems, commonly as part of an extortion attempt.