Abbreviations and definitions

Abbreviation/Term	Description
AF	Allele frequency
BAM/CRAM	Binary Alignment Map of a participant’s genome. A CRAM file is a compressed alternative to a BAM file.
Cellbase	Annotation database - https://github.com/opencb/cellbase
CNV	Copy number variant
CVA	Clinical Variant Ark
GLH	NHS Genomic Laboratory Hub
NHS GMS	NHS Genomic Medicine Service
gnomAD	Genome Aggregation Database. This is a coalition of investigators seeking to aggregate and harmonize exome and genome sequencing data from a variety of large-scale sequencing projects, and to make summary data available for the wider scientific community. https://gnomad.broadinstitute.org/
GRCh38	The human assembly GRCh38
GSP	Generation Study Portal
HPO	Human Phenotype Ontology
LOF	Loss of function
MOI	Mode of inheritance
MNV	Multi nucleotide variant
NGDCS	Newborns Genomic data check
NSP	Newborn Screening Pipeline
PanelApp	PanelApp (Open Source) is a crowdsourcing tool containing the information about virtual gene panels used in the Generation Study as well as other studies, such as NHS Genomics Medicine Service and the 100,000 Genomes Project. https://panelapp.genomicsengland.co.uk/
QC	Quality control
SNV	Single nucleotide variant
SOP	Standard operating procedure
VRT	Variant Review Tool (Genomics England decision support tool for interpreting variants prioritised in Generation Study samples and for generating results reports)