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Article

Rare Genetic Variants of Large Effect Influence Risk of Type 1 Diabetes.

Diabetes - 1 Apr 2020

Forgetta Vincenzo, Manousaki Despoina, Istomine Roman, Ross Stephanie, Tessier Marie-Catherine, Marchand Luc, Li Min, Qu Hui-Qi, Bradfield Jonathan P, Grant Struan F A, Hakonarson Hakon, Paterson Andrew D, Piccirillo Ciriaco, Polychronakos Constantin, Richards J Brent

Abstract excerpt

Most replicated genetic determinants for type 1 diabetes are common (minor allele frequency [MAF] >5%). We aimed to identify novel rare or low-frequency (MAF <5%) single nucleotide polymorphisms with large effects on risk of type 1 diabetes. We undertook deep imputation of genotyped data followed by genome-wide association testing and meta-analysis of 9,358 type 1 diabetes case and 15,705 control subjects from 12...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 32005708
DOI: 10.2337/db19-0831
PMCID: PMC7085253

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