Table 1.

Glossary

Epigenome	Chemical modifications of DNA or histones, such as methylation, that may influence gene expression and chromatin conformation
Genetic polymorphism	Genetic variant that is common in the general population, usually biallelic, limited to a single nucleotide, and defined as minor allele frequency ≥5%
Genome	Complete set of DNA in an organism, including all genes, that is present in all cells; the human genome consists of 3 billion base pairs
Genome-wide association study	Test for association of a genome-wide set of genetic variants with a phenotype, typically common variants (polymorphisms)
High-throughput sequencing	Methods to determine nucleotide sequence at high throughput based on multiple parallelized reactions; alternative to the classical, low-throughput Sanger sequencing
Linkage analysis	Method in genetics for discovery of chromosomal regions transmitted with disease in a family through genotyping of polymorphic sites distributed across the genome
lncRNA	Long, nonprotein-coding RNA transcripts with diverse and often unclear functions
Mendelian randomization	Observational method of using genetic variation to examine causal effect of a modifiable exposure on an outcome
Metabolome	A heterogeneous group of small molecules (metabolites), including amino acids, carbohydrates, lipids
Microarray	Technology for parallel testing of multiple analytes from mixture, based on a small glass or plastic slide to which multiple reagents are attached
Microbiome	Collection of all genomes in a microbial ecosystem
MicroRNA	Small non–protein coding RNA molecule (usually about 22 nucleotides) that functions in RNA silencing and post-transcriptional regulation of gene expression
Peripartum cardiomyopathy	A form of dilated cardiomyopathy with onset during the final month of pregnancy or in the 6 months after delivery
Proteome	Full set of proteins expressed in an organism
Sequencing depth	Number of times a given nucleotide has been read in a sequencing experiment, high depth facilitates distinguishing sequencing errors
Throughput	Number of samples and/or analytes undergoing analysis in a certain timeframe
Transcriptome	The full set of RNA transcripts in an organism