Natural human knockouts and Mendelian disorders: deep phenotyping in Italian isolates

Whole genome sequencing (WGS) allows the identification of human knockouts (HKOs), individuals in whom loss of function (LoF) variants disrupt both alleles of a given gene. HKOs are a valuable model for understanding the consequences of genes function loss. Naturally occurring biallelic LoF variants...

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Bibliographic Details
Published in:	European journal of human genetics : EJHG Vol. 29; no. 8; pp. 1272 - 1281
Main Authors:	Spedicati, Beatrice, Cocca, Massimiliano, Palmisano, Roberto, Faletra, Flavio, Barbieri, Caterina, Francescatto, Margherita, Mezzavilla, Massimo, Morgan, Anna, Pelliccione, Giulia, Gasparini, Paolo, Girotto, Giorgia
Format:	Journal Article
Language:	English
Published:	England Nature Publishing Group 01-08-2021 Springer International Publishing
Subjects:	Ablation Childrens health Diepoxybutane Fanconi syndrome Gene Frequency Genes Genetic Diseases, Inborn - genetics Genetic disorders Genomes Humans Italy Loss of Function Mutation Maternal & child health Phenotypes Phenotyping Population - genetics Reproductive Isolation Rhodopsin kinase Whole genome sequencing Whole Genome Sequencing - statistics & numerical data Italy
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