List of Abbreviations

Terms marked with an asterisk have definitions available on the NHGRI Talking Glossary of Genomic and Genetic Terms (https://www.genome.gov/genetics-glossary/). Enter the term of interest in the search pane to return the definition. (Note: the continuing existence of this online glossary is not guaranteed; it may be removed or moved to another NIH URL at some future date.)

1000G: 1000 Genomes Project, a catalogue of common human genetic variation, maintained by the International Genome Sample Resource
ACE: Angiotensin Converting Enzyme
ADHD: Attention Deficit Hyperactivity Disorder
AHeFT: African American Heart Failure Trial
AML: Adult Acute Myeloid Leukemia
BAC: Bacterial Artificial ChromosomeDefinition available on the NHGRI Talking Glossary
BAM: Binary Alignment Map
BAP: Biotechnology Action Program
bp: base pairDefinition available on the NHGRI Talking Glossary
CCDG: Centers for Common Disease Genomics
ccRE: candidate cis-Regulatory Elements
CDCV: Common disease, common variant
CEER: Centers of Excellence (ELSI Research Program)
CEPH: Centre d’Etudes des Polymorphismes Humaine (Centre for the Study of Human Polymorphism)
CF: Cystic FibrosisDefinition available on the NHGRI Talking Glossary
ChIP: Chromatin-Immuno-Precipitation
ChIP-seq: ChIP coupled to high-throughput sequencing
ClinGen: Clinical Genome Resource
cM: “centimorgan”—a unit for measuring genetic linkage on a chromosomeDefinition available on the NHGRI Talking Glossary
CNRS: Centre National de la Recherche Scientifique
CNVs: Copy-Number Variants
COSMIC: Catalogue of Somatic Mutations in Cancer
CR: Causal Role (Function)
CRAM: Compressed Reference Alignment Map
CRISPR: Clustered Regularly Interspaced Short Palindromic Repeats
CSER: Clinical Sequencing Exploratory Research
CSHL: Cold Spring Harbor Laboratory
DOE: Department of Energy
DTC: Direct-to-Consumer Genetic Testing
EBI: European Bioinformatics Institute
EEC: European Economic Community
EEOC: Equal Employment Opportunity Commission
EHR: Electronic Health Record
ELSI: Ethical, Legal, and Social Implications (of Genomics Research Program)
EMBL: European Molecular Biology Laboratory
eMERGE: Electronic Medical Records and Genomics Network
EMR: Electronic Medical Record
ENCODE: The Encyclopedia of DNA Elements
EST: Expressed Sequence Tag
EUROGEM: European Gene Mapping Project
FCC: Functional Characterization Center
FICV: Functional Identification, Characterization, and Validation
FOA: Funding Opportunity Announcement
FP2: Second Framework Programme of the European Communities
FY: Fiscal Year
GenBank: NIH genetic sequence database containing an annotated collection of all publicly available DNA sequences
GESTEC: Genome Science and Technology Center
GINA: Genetic Information Nondiscrimination ActDefinition available on the NHGRI Talking Glossary
GNM: Genome Study Section
GPS: Genome-Wide Polygenic Score (also known as a polygenic risk score* colloquially)
GSP: Genome Sequencing Program
GTEx: Genotype-Tissue Expression
GWAS: Genome-Wide Association Studies
H: broad heritability = $V_{G} / V_{P}$
HapMap: The International HapMap Project
HbA: Adult hemoglobin
HbF: Fetal hemoglobin
HERAC: Health and Environmental Advisory Committee
HGAP: Human Genome Analysis Program
HGDP: Human Genome Diversity Project
HGP: Human Genome Project
HHMI: Howard Hughes Medical Institute
HPFH: Hereditary Persistence of Fetal Hemoglobin
HUGO: Human Genome Organization
ICRF: Imperial Cancer Research Fund
IGNITE: Implementing Genomics in Practice Network Consortium
IHEC: International Human Epigenome Consortium
IHGC: International Human Genome Consortium
indels: insertions/deletions of nucleotides, a common mutation type
iPS: induced Pluripotent Stem (Cell)
IRB: Institutional Review Board
kb: kilobase
LD: Linkage DisequilibriumDefinition available on the NHGRI Talking Glossary
LGBTQIA+: Lesbian, Gay, Bisexual, Transgender, Queer, Intersex, Asexual
LIMS: Laboratory Information Management System
LMB: Laboratory of Molecular Biology, Cambridge UK
LSAC: Large-Scale Sequencing and Analysis Center
Mb: megabaseDefinition available on the NHGRI Talking Glossary
MGC: Mammalian Gene Collection
MGED: Microarray Gene Expression Data
modENCODE: Model Organism Encyclopedia of DNA Elements
modERN: Model Organism Encyclopedia of Regulatory Networks
MRC: British Medical Research Council
NACHGR: National Advisory Council for Human Genome Research
NAS: National Academy of Sciences
NCBI: National Center for Biotechnology Information
NCHGR: National Center for Human Genome Research
NCI: National Cancer Institute
NGS: Next-Generation SequencingDefinition available on the NHGRI Talking Glossary
NHGRI: National Human Genome Research Institute
NICHD: National Institute of Child Health and Human Development
NIGMS: National Institute of General Medical Sciences
NIH: National Institutes of Health
NPG: Nature Publishing Group
NRC: National Research Council
OHGR: Office for Human Genome Research
OMB: Office of Management and Budget
ONP: Oxford Nanopore Technologies
ORCiD: alphanumeric code to uniquely identify authors and contributors of scholarly communication
PA: Program Announcement
PCR: Polymerase Chain ReactionDefinition available on the NHGRI Talking Glossary
PDR: Polymorphism Discovery Resource
Phrap: software program for assembling shotgun DNA sequence data
Phred: software program that reads DNA sequencing trace files, calls bases, and assigns a quality value to each called base
PRS: Polygenic Risk ScoreDefinition available on the NHGRI Talking Glossary
Ref Seq: Reference Sequence (a standardized, quality-controlled collection of genomic sequence)
RFA: Request for Applications
RFLP: Restriction Fragment Length Polymorphism
RRI: Responsible Research and Innovation
SAM: Sequence Alignment Map
SCD: Sickle Cell DiseaseDefinition available on the NHGRI Talking Glossary
SCREEN: Search Candidate cis-Regulatory Elements by ENCODE
SE: Selected Effect (Function)
SES: Socioeconomic Status
SI: Supplementary Information
SNP: Single Nucleotide PolymorphismDefinition available on the NHGRI Talking Glossary
SSLP: Simple Sequence Length Polymorphism
STRP: Short Tandem Repeat Polymorphism
STRUCTURE: software package for using genotype data to investigate population structure
STS: Science, Technology, and Society
STS: Sequence-Tagged Site
SV: Structural Variants
TCGA: The Cancer Genome Atlas
TIGR: The Institute for Genome Research
TSP: Trimmed to Short Primer
TSQ: Trimmed to Short Quality
UKDA: United Kingdom Data Archive
UNESCO: United Nations Educational, Scientific and Cultural Organization
$V_{E}$: Environmental Variance
$V_{G}$: Genotypic Variance
$V_{P}$: Phenotypic Variance
YAC: Yeast Artificial Chromosome

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