5mC	5-methylcytosine
ASM	Allele-Specific Methylation
BAM	Binary Alignment/Map
ChIP	Chromatin Immunoprecipitation
CTCF	CCCTC-Binding Factor
CpG	Cytosine-phosphate-Guanine dinucleotide
DESeq2	Differential Gene Expression Analysis based on the Negative Binomial Distribution
	(v1.30.0)
DeepLIFT	Deep Learning Important FeaTures
DNA	Deoxyribonucleic Acid
DRAGEN	Dynamic Read Analysis for GENomics
FDR	False Discovery Rate
F-score	Harmonic mean of precision and recall
FAST5	Oxford Nanopore raw signal file format
FASTQ	File format for sequences with quality scores
gDNA	Genomic DNA
GIAB	Genome In A Bottle
GO	Gene Ontology
GAT	Genomic Association Tester
H3K27Ac	Histone H3 lysine 27 acetylation
H3K4Me1	Histone H3 lysine 4 monomethylation
H3K4Me3	Histone H3 lysine 4 trimethylation
hg38	Human Genome Build 38
indel	Insertion/Deletion
NGS	Next-Generation Sequencing
N50	Contig or haplotype length metric
ONT	Oxford Nanopore Technologies
PBMC	Peripheral Blood Mononuclear Cells
Q30	Quality score threshold (error probability = 1/1000)
RIN	RNA Integrity Number
RNA	Ribonucleic Acid
Sei	Sequence-based regulatory activity inference model
SNP	Single-Nucleotide Polymorphism
SNV	Single-Nucleotide Variant
TSS	Transcription Start Site
TF	Transcription Factor
UHMW	Ultra-High Molecular Weight
VCF	Variant Call Format
WGS	Whole-Genome Sequencing