Evidence map›Paper›PMID 22307713›Full record

ArticleMethods in molecular biology (Clifton, N.J.)2012

Detecting rare variants.

Tao Feng, Xiaofeng Zhu

Abstract read
In one paragraph

Article in Methods in molecular biology (Clifton, N.J.), 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
–field-weighted citation impact
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

5 citing papers in PubMed.

  1. Article
  2. Review
  3. Article
  4. Review
  5. Article
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.

Tao FengDepartment of Epidemiology and Biostatistics, Case Western Reserve University School of Medicine, Cleveland, OH, USA. tfeng@darwin.epbi.cwru.edu
Xiaofeng Zhu

Funding

Statistical methods for analyzing high-throughput genotype dataR01HG003054 · NHGRI · LOYOLA UNIVERSITY CHICAGO · PI ZHU, XIAOFENG · 2005 to 2017
$3.6M
NHGRI NIH HHS R01 HG003054
6 · The paper itself

Abstract

The limitations of genome-wide association (GWA) studies that are based on the common disease common variants (CDCV) hypothesis have motivated geneticists to test the hypothesis that rare variants contribute to the variation of common diseases, i.e., common disease/rare variants (CDRV). The newly developed high-throughput sequencing technologies have made the studies of rare variants practicable. Statistical approaches to test associations between a phenotype and rare variants are quickly developing. The central idea of these methods is to test a set of rare variants in a defined region or regions by collapsing or aggregating rare variants, thereby improving the statistical power. In this chapter, we introduce these methods as well as their applications in practice.

Indexed as

Gene FrequencyPolymorphism, Single NucleotideGenetics, PopulationGenetic VariationGenome-Wide Association StudyHumans

Identifiers

PMID22307713
PMCPMC5201127

What OpenQuestion holds

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Registered trials

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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.