ID

46173

Descripción

Principal Investigator: Steven Kittner, MD, University of Maryland School of Medicine, Baltimore, MD, USA MeSH: Cerebral infarction https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000615 The NINDS Stroke Genetics Network (SiGN) is a large international collaboration designed to detect genetic variants that predispose to subtypes of ischemic stroke. The study implements a genome wide association study (GWAS) methodology with all stroke cases undergoing phenotypic and stroke-subtype classification using the same web-based Causative Classification of Stroke (CCS) system, with data entered by trained and certified adjudicators at participating Research Centers (GRC's). SiGN includes ischemic stroke cases from 24 GRC's, 13 from the US and 11 from Europe. Each GRC has access to well-characterized ischemic stroke cases in which extensive phenotype data and high-quality DNA was available. Genome-wide data was available for many cases and for those without, new genome-wide genotyping, including exome chip genotyping of rare variants, was done through the Center for Inherited Diseases Research (CIDR). To maximize power for subtype analyses, genotyping resources were allocated almost exclusively to cases. With few exceptions, controls were drawn from studies with publicly available genome-wide data.

Link

dbGaP study=phs000615

Palabras clave

Versiones (2)

1. 15/11/22 15/11/22 - Simon Heim
2. 29/1/25 29/1/25 - Akane Nishihara

Titular de derechos de autor

Steven Kittner, MD, University of Maryland School of Medicine, Baltimore, MD, USA

Subido en

29 de enero de 2025

DOI

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Licencia