Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Rare variants in ischemic stroke: an exome pilot study.

PloS one - 1 Jan 2012

Cole John W, Stine O Colin, Liu Xinyue, Pratap Abhishek, Cheng Yuching, Tallon Luke J, Sadzewicz Lisa K, Dueker Nicole, Wozniak Marcella A, Stern Barney J, Meschia James F, Mitchell Braxton D, Kittner Steven J, O'Connell Jeffrey R

Abstract excerpt

The genetic architecture of ischemic stroke is complex and is likely to include rare or low frequency variants with high penetrance and large effect sizes. Such variants are likely to provide important insights into disease pathogenesis compared to common variants with small effect sizes. Because a significant portion of human functional variation may derive from the protein-coding portion of genes we undertook a...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Case-Control Studies
Share to Caseins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cerebral Infarction

Share to Genetic Association Studies

Share to Heterozygote

Share to Sequence Analysis, DNA

Share to Young Adult

Source

Open in PubMed Open full text

Identifiers

PMID: 22536414
DOI: 10.1371/journal.pone.0035591
PMCID: PMC3334983

Genes

CSN3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Rare variants in ischemic stroke: an exome pilot study.PMID 22536414Read ↗

Rare and Coding Region Genetic Variants Associated With Risk of Ischemic Stroke: The NHLBI Exome Sequence Project.Semantic proximity Read ↗

Short report: Targeted analysis of whole exome sequencing data in Indian cryptogenic stroke patients.Semantic proximity Read ↗

Exome Array Analysis of 9,721 ischemic stroke cases from the SiGN ConsortiumSemantic proximity Read ↗

Whole-Exome Sequencing in 22 Young Ischemic Stroke Patients With Familial Clustering of StrokeSemantic proximity Read ↗

Short report: Targeted analysis of whole exome sequencing data in Indian cryptogenic stroke patientsSemantic proximity Read ↗

Clinical exome sequencing for stroke evaluation uncovers a high frequency of Mendelian disorders: a retrospective analysisSemantic proximity Read ↗

Idiopathic neonatal arterial ischaemic stroke: a trio-based whole-exome sequencing study.Semantic proximity Read ↗

Clinical exome sequencing uncovers a high frequency of Mendelian disorders in infants with stroke: A retrospective analysis.Semantic proximity Read ↗

Ischemic Stroke: From Next Generation Sequencing and GWAS to Community Genomics?Semantic proximity Read ↗

Associations of NINJ2 sequence variants with incident ischemic stroke in the Cohorts for Heart and Aging in Genomic Epidemiology (CHARGE) consortium.Semantic proximity Read ↗

Rare coding variation in paraoxonase-1 is associated with ischemic stroke in the NHLBI Exome Sequencing Project.Semantic proximity Read ↗

Whole-exome sequencing analyses in a Saudi Ischemic Stroke Cohort reveal association signals, and shows polygenic risk scores are related to Modified Rankin Scale Risk.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.