GlossaryΒΆ

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