.. _glossary: ======== Glossary ======== .. 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 :term:`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