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 variant aggregation in 148,508 exomes identifies genes associated with proxy dementia.

Scientific reports - 7 Feb 2023

Wightman Douglas P, Savage Jeanne E, de Leeuw Christiaan A, Jansen Iris E, Posthuma Danielle

Abstract excerpt

Proxy phenotypes allow for the utilization of genetic data from large population cohorts to analyze late-onset diseases by using parental diagnoses as a proxy for genetic disease risk. Proxy phenotypes based on parental diagnosis status have been used in previous studies to identify common variants associated with Alzheimer's disease. As of yet, proxy phenotypes have not been used to identify genes associated...

Read the complete abstract on PubMed

Topics

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

Share to Alzheimer Disease
Share to Exome
Share to Genetic Predisposition to Disease

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Variation

Share to Genome-Wide Association Study

Share to LDL-Receptor Related Proteins

Share to Membrane Transport Proteins

Share to Risk Factors

Source

Open in PubMed Open full text

Identifiers

PMID: 36750708
DOI: 10.1038/s41598-023-29108-8
PMCID: PMC9905079

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 variant aggregation in 148,508 exomes identifies genes associated with proxy dementia.PMID 36750708Read ↗

Rare Variant Aggregation in 148,508 Exomes Identifies Genes Associated with Proxy Alzheimer’s disease/DementiaSemantic proximity Read ↗

Whole exome sequencing analyses identified novel genes for Alzheimer's disease and related dementia.Semantic proximity Read ↗

Whole-exome sequencing study identifies genes associated with Alzheimer’s disease and related dementiasSemantic proximity Read ↗

Rare coding variants from ADSP R5 whole-genome sequencing implicate novel genes in Alzheimer’s diseaseSemantic proximity Read ↗

Multi-ancestry exome-wide study identifies variants associated with Alzheimer's disease protection.Semantic proximity Read ↗

Biobank-scale characterization of Alzheimer’s disease and related dementias identifies potential disease-causing variants, risk factors, and genetic modifiers across diverse ancestriesSemantic proximity Read ↗

Identification of 16 novel Alzheimer’s disease susceptibility loci using multi-ancestry meta-analyses of clinical Alzheimer’s disease and AD-by-proxy cases from four whole genome sequencing datasetsSemantic proximity Read ↗

Analysis of 470,000 exome-sequenced UK Biobank participants identifies genes containing rare variants which confer dementia riskSemantic proximity Read ↗

Analysis of high-risk pedigrees identifies 11 candidate variants for Alzheimer's disease.Semantic proximity Read ↗

Assessment of Mendelian and risk-factor genes in Alzheimer disease: A prospective nationwide clinical utility study and recommendations for genetic screening.Semantic proximity Read ↗

Genomic analyses reveal new insights into Alzheimer's diseaseSemantic proximity Read ↗

Alzheimer’s Disease variant portal (ADVP): a catalog of genetic findings for Alzheimer’s DiseaseSemantic proximity Read ↗

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