Glossary

AAB: Alternate Allele Balance, computed as min(AD/DP, 1 - AD / DP), e.g., 3/10 reads have an AAB of 0.3, as do 7/10 reads.
ACGS: Association for Clinical Genomic Science
ACMG: American College of Medical Genetics
AD: Alternative Depth, number of reads showing alternative allele.
ClinVar: A database of variants with their clinical annotation.
CADD: Combined Annotation Dependent Depletion, a variant pathogenicity score available from https://cadd.gs.washington.edu
DP: Depth of coverage, number of reads covering a position.
ENSEMBL: TODO
Entrez: TODO
Exomiser: TODO
IGV: Integrated Genome Viewer
HiPhive: TODO
HTS: High-Throughput Sequencing
MEDLINE: The most relevant bibliographic database for the life sciences.
MutationDistiller: A variant pathogenicity tool available at https://mutationdistiller.org
MutationTaster: A variant pathogenicity tool available at https://mutationtaster.org
NCBI: TODO
OMIM: Online Mendelian Inheritance in Man
Phenix: TODO
Phive: TODO
PubMed: A free search engine primarily accessing the MEDLINE database of references
QC: Quality Control
SNV: Single Nucleotide Variant
SOP: Standard Operating Procedure
UCSC: University of California, Santa Cruz; hosting the very popular UCSC genome browser
UMD Predictor: A variant pathogenicity prediction tool available at https://umd-predictor.eu
Varsome: A commercial website/product that aggregates information about a variant and allows the public annotation of variants; available at https://www.varsome.com
WES: Whole Exome Sequencing
WGS: Whole Genome Sequencing