Article

Two-Stage Whole-Exome Sequencing Improves to Predict a Risk of Adult Moyamoya Disease in 369,570 Individuals

2024-10-15

Abstract excerpt

<title>Abstract</title> <p>Whole-exome sequencings (WES) have an informative in the limelight to identify causative mutations for adult moyamoya disease (MMD), understanding genomic structures of etiology. Here, we conducted inaugural two-stage WES aimed at uncovering coding modifiers implicated in MMD. Our study comprised an initial discovery phase with 105 MMDs and 115 controls, followed by validation phases in...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: cd3a4348-91cb-5405-ba8a-fca7995453a0
DOI: 10.21203/rs.3.rs-4952354/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Two-Stage Whole-Exome Sequencing Improves to Predict a Risk of Adult Moyamoya Disease in 369,570 IndividualsDOI 10.21203/rs.3.rs-4952354/v1Read

Disease Variant Landscape of a Large Multiethnic Population of Moyamoya Patients by Exome Sequencing.Semantic proximity Read

Genome-wide association study identifies novel susceptibilities to adult moyamoya disease.Semantic proximity Read

Whole-exome sequencing reveals the genetic causes and modifiers of moyamoya syndrome.Semantic proximity Read

Meta-analysis of genotype and phenotype studies to confirm the predictive role of the RNF213 p.R4810K variant for moyamoya disease.Semantic proximity Read

Novel Susceptibility Loci for Moyamoya Disease Revealed by a Genome-Wide Association Study.Semantic proximity Read

Clinical and Molecular Features of 5 European Multigenerational Families With Moyamoya AngiopathySemantic proximity Read

Frequency of the moyamoya-related RNF213 p.Arg4810Lys variant in 1,516 Korean individualsSemantic proximity Read

Association of Genetic Variants With Moyamoya Disease in 13 000 Individuals: A Meta-Analysis.Semantic proximity Read

Familial Moyamoya disease associated with dual RNF213 variants (R4810K and T1727M): A case report and genetic investigation.Semantic proximity Read

Exome Sequencing Identified CCER2 as a Novel Candidate Gene for Moyamoya Disease.Semantic proximity Read

DIAPH1 Variants in Non-East Asian Patients With Sporadic Moyamoya Disease.Semantic proximity Read

RNF213 rare variants in an ethnically diverse population with Moyamoya disease.Semantic proximity Read