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.
Association for Clinical Genomic Science
American College of Medical Genetics
Alternative Depth, number of reads showing alternative allele.
A database of variants with their clinical annotation.
Combined Annotation Dependent Depletion, a variant pathogenicity score available from https://cadd.gs.washington.edu
Depth of coverage, number of reads covering a position.
Integrated Genome Viewer
The most relevant bibliographic database for the life sciences.
A variant pathogenicity tool available at https://mutationdistiller.org
A variant pathogenicity tool available at https://mutationtaster.org
Online Mendelian Inheritance in Man
A free search engine primarily accessing the MEDLINE database of references
Single Nucleotide Variant
Standard Operating Procedure
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
A commercial website/product that aggregates information about a variant and allows the public annotation of variants; available at https://www.varsome.com
Whole Exome Sequencing
Whole Genome Sequencing