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