Evidence map›Paper›PMID 23836590›Full record

ArticleGenetic epidemiology2013

Identification of grouped rare and common variants via penalized logistic regression.

Kristin L Ayers, Heather J Cordell

Open access · hybridAbstract read
In one paragraph

Article in Genetic epidemiology, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.

0numbers the graph read from it
0cells of the map it votes in
9citing papers in PubMed
3.2field-weighted citation impact, top 9% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

9 citing papers in PubMed, 14 citations in OpenAlex.

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  8. Personalized medicine in hematology - A landmark from bench to bed.Computational and structural biotechnology journal · 2014
    Review
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

2 authors at 1 institution in 1 country.

Kristin L AyersInstitute of Genetic Medicine, Newcastle University, Newcastle upon Tyne NE1 3BZ, United Kingdom. kayers@ucla.edu
Heather J Cordell
Newcastle University · GB

Funding

Wellcome Trust 087436
6 · The paper itself

Abstract

In spite of the success of genome-wide association studies in finding many common variants associated with disease, these variants seem to explain only a small proportion of the estimated heritability. Data collection has turned toward exome and whole genome sequencing, but it is well known that single marker methods frequently used for common variants have low power to detect rare variants associated with disease, even with very large sample sizes. In response, a variety of methods have been developed that attempt to cluster rare variants so that they may gather strength from one another under the premise that there may be multiple causal variants within a gene. Most of these methods group variants by gene or proximity, and test one gene or marker window at a time. We propose a penalized regression method (PeRC) that analyzes all genes at once, allowing grouping of all (rare and common) variants within a gene, along with subgrouping of the rare variants, thus borrowing strength from both rare and common variants within the same gene. The method can incorporate either a burden-based weighting of the rare variants or one in which the weights are data driven. In simulations, our method performs favorably when compared to many previously proposed approaches, including its predecessor, the sparse group lasso [Friedman et al., 2010].

Indexed as

Genetic VariationLogistic ModelsModels, GeneticCase-Control StudiesComputer SimulationGene FrequencyGenetics, PopulationHumansPolymorphism, Single Nucleotideassociation analysiselastic netlassopenalized likelihoodrare variants

Identifiers

PMID23836590
PMCPMC3842118
OpenAlexW1591794597

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.