Karczewski KJ et al., Nature 2020

GPTKB entity

Statements (35)
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gptkbp:doi 10.1038/s41586-020-2308-7
gptkbp:hasJournal gptkb:Nature
https://www.w3.org/2000/01/rdf-schema#label Karczewski KJ et al., Nature 2020
gptkbp:main_finding Identified genes intolerant to loss-of-function variants
Provided a resource for interpreting human genetic variation
Updated the gnomAD database
Quantified mutational constraint spectrum using variation in 141,456 humans
gptkbp:pages 434-443
gptkbp:publicationYear 2020
gptkbp:sample_size 141,456 humans
gptkbp:subjectArea genomics
human genetics
mutation constraint
gptkbp:title The mutational constraint spectrum quantified from variation in 141,456 humans
gptkbp:volume 581
gptkbp:bfsParent gptkb:Genome_Aggregation_Database_(gnomAD)
gptkbp:bfsLayer 4