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gptkbp:instanceOf
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gptkb:academic_journal
|
|
gptkbp:author
|
gptkb:James_Ware
gptkb:Anne_H._O'Donnell-Luria
gptkb:Eric_Banks
gptkb:Eric_V._Minikel
gptkb:Jack_A._Kosmicki
gptkb:Kaitlin_E._Samocha
gptkb:Monkol_Lek
gptkb:Timothy_Fennell
gptkb:Konrad_J._Karczewski
and many others
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|
gptkbp:citation
|
>10,000 (as of 2024)
|
|
gptkbp:consortium
|
gptkb:Exome_Aggregation_Consortium_(ExAC)
|
|
gptkbp:doi
|
10.1038/nature19057
|
|
gptkbp:foundIn
|
gptkb:Comprehensive_catalog_of_protein-coding_genetic_variation_in_60,706_humans
Identification of loss-of-function intolerant genes
Resource for clinical interpretation of genetic variants
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
Lek et al., Nature 2016
|
|
gptkbp:publicationYear
|
2016
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|
gptkbp:publishedIn
|
gptkb:Nature
|
|
gptkbp:title
|
gptkb:Analysis_of_protein-coding_genetic_variation_in_60,706_humans
|
|
gptkbp:topic
|
gptkb:Exome_Aggregation_Consortium_(ExAC)
exome sequencing
human genetic variation
protein-coding genes
|
|
gptkbp:url
|
https://www.nature.com/articles/nature19057
|
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gptkbp:bfsParent
|
gptkb:Exome_Aggregation_Consortium_(ExAC)
|
|
gptkbp:bfsLayer
|
5
|