The individual and global impact of copy-number variants on complex human traits

The impact of copy-number variations (CNVs) on complex human traits remains understudied. We called CNVs in 331,522 UK Biobank participants and performed genome-wide association studies (GWASs) between the copy number of CNV-proxy probes and 57 continuous traits, revealing 131 signals spanning 47 ph...

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Vydané v:	American journal of human genetics Ročník 109; číslo 4; s. 647
Hlavní autori:	Auwerx, Chiara, Lepamets, Maarja, Sadler, Marie C, Patxot, Marion, Stojanov, Miloš, Baud, David, Mägi, Reedik, Porcu, Eleonora, Reymond, Alexandre, Kutalik, Zoltán
Médium:	Journal Article
Jazyk:	English
Vydavateľské údaje:	United States 07.04.2022
Predmet:	DNA Copy Number Variations - genetics Female Genome-Wide Association Study Humans Liver-Specific Organic Anion Transporter 1 Multifactorial Inheritance Phenotype Polymorphism, Single Nucleotide - genetics structural variants GWAS lifespan mutational burden variable expressivity penetrance CNV pleiotropy UK Biobank polygenicity
ISSN:	1537-6605, 1537-6605
On-line prístup:	Zistit podrobnosti o prístupe
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