Genome Aggregation Database (gnomAD)
GPTKB entity
Statements (30)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genomic database
|
| gptkbp:abbreviation |
gptkb:gnomAD
|
| gptkbp:citation |
gptkb:Karczewski_KJ_et_al.,_Nature_2020
|
| gptkbp:dataSource |
open access
multiple sequencing projects |
| gptkbp:excludes |
first-degree relatives
individuals with severe pediatric disease |
| gptkbp:focus |
human genetic variation
|
| https://www.w3.org/2000/01/rdf-schema#label |
Genome Aggregation Database (gnomAD)
|
| gptkbp:includes |
insertions and deletions
single nucleotide variants structural variants |
| gptkbp:latestReleaseVersion |
v2.1.1
v3.1.2 |
| gptkbp:license |
CC BY 4.0
|
| gptkbp:maintainedBy |
gptkb:Broad_Institute
|
| gptkbp:numberOfSamples |
over 140,000 individuals
|
| gptkbp:predecessor |
gptkb:Exome_Aggregation_Consortium_(ExAC)
|
| gptkbp:provides |
genome sequencing
exome sequencing |
| gptkbp:releaseYear |
2016
|
| gptkbp:type |
allele frequency
variant annotation |
| gptkbp:usedFor |
population genetics
clinical variant interpretation rare disease research |
| gptkbp:website |
https://gnomad.broadinstitute.org/
|
| gptkbp:分布地区 |
global
|
| gptkbp:bfsParent |
gptkb:Broad_Institute
|
| gptkbp:bfsLayer |
3
|