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 testing of imputed data: an analysis pipeline typified.

Human heredity - 1 Jan 2014

Drichel Dmitriy, Herold Christine, Lacour André, Ramirez Alfredo, Jessen Frank, Maier Wolfgang, Noethen Markus M, Leber Markus, Vaitsiakhovich Tatsiana, Becker Tim

Abstract excerpt

Important methodological advancements in rare variant association testing have been made recently, among them collapsing tests, kernel methods and the variable threshold (VT) technique. Typically, rare variants from a region of interest are tested for association as a group ('bin'). Rare variant...

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 Case-Control Studies
Share to Genome, Human

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genome-Wide Association Study

Share to Germany

Share to Models, Statistical

Share to Regression Analysis

Share to Software

Source

Identifiers

PMID: 25504234
DOI: 10.1159/000368676

Genes

APOE
MCPH1
MED18
NOTCH3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-25504234-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Rare variant testing of imputed data: an analysis pipeline typified.PMID 25504234Read ↗

A general framework for detecting disease associations with rare variants in sequencing studies.Semantic proximity Read ↗

Application of the STAAR framework in detecting rare variant associations with Alzheimer disease and related dementias: Insights and implications.Semantic proximity Read ↗

Efficient and flexible Integration of variant characteristics in rare variant association studies using integrated nested Laplace approximation.Semantic proximity Read ↗

A W-test collapsing method for rare-variant association testing in exome sequencing data.Semantic proximity Read ↗

Efficient and Flexible Integration of Variant Characteristics in Rare Variant Association Studies Using Integrated Nested Laplace ApproximationSemantic proximity Read ↗

Variant association tools for quality control and analysis of large-scale sequence and genotyping array data.Semantic proximity Read ↗

Dynamic Bayesian testing of sets of variants in complex diseases.Semantic proximity Read ↗

Exautomate: A user-friendly tool for region-based rare variant association analysis (RVAA)Semantic proximity Read ↗

Rare-variant association analysis: study designs and statistical tests.Semantic proximity Read ↗

Methods for collapsing multiple rare variants in whole-genome sequence data.Semantic proximity Read ↗

Detecting rare variants.Semantic proximity Read ↗

TRIO RVEMVS: A Bayesian framework for rare variant association analysis with expectation-maximization variable selection using family trio data.Semantic proximity Read ↗

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