EDAM - Bioscientific data analysis ontology

Last uploaded: February 26, 2021
Jump to:
loading...
Preferred Name

Variant calling
Synonyms

Somatic variant calling

Exome variant detection

Genome variant detection

Germ line variant calling

de novo mutation detection

Allele calling

Mutation detection

Variant mapping
Definitions

Methods often utilise a database of aligned reads. Somatic variant calling is the detection of variations established in somatic cells and hence not inherited as a germ line variant. Variant detection Detect, identify and map mutations, such as single nucleotide polymorphisms, short indels and structural variants, in multiple DNA sequences. Typically the alignment and comparison of the fluorescent traces produced by DNA sequencing hardware, to study genomic alterations.
ID

http://edamontology.org/operation_3227
comment

Methods often utilise a database of aligned reads.

Somatic variant calling is the detection of variations established in somatic cells and hence not inherited as a germ line variant.

Variant detection
Created in

1.1
hasDefinition

Detect, identify and map mutations, such as single nucleotide polymorphisms, short indels and structural variants, in multiple DNA sequences. Typically the alignment and comparison of the fluorescent traces produced by DNA sequencing hardware, to study genomic alterations.
hasExactSynonym

Variant mapping
hasNarrowSynonym

Somatic variant calling

Exome variant detection

Genome variant detection

Germ line variant calling

de novo mutation detection

Allele calling

Mutation detection
inSubset

http://edamontology.org/bio

http://edamontology.org/operations
label

Variant calling
prefixIRI

operation_3227
prefLabel

Variant calling
subClassOf

http://edamontology.org/operation_3197

http://edamontology.org/operation_2478
Add comment
Add proposal
Delete Subject Author Type Created
No notes to display