Evidence map›Paper›PMID 22128058›Full record

ArticleGenetic epidemiology2011

Analysis of exome sequences with and without incorporating prior biological knowledge.

Junghyun Namkung, Paola Raska, Jia Kang, Yunlong Liu, Qing Lu, Xiaofeng Zhu

Abstract read
In one paragraph

Article in Genetic epidemiology, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing 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

4 citing papers in PubMed.

  1. Article
  2. Review
  3. Article
  4. 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

6 authors.

Junghyun NamkungDepartment of Epidemiology and Biostatistics, Case Western Reserve University, Cleveland, OH 44106, USA.
Paola Raska
Jia Kang
Yunlong Liu
Qing Lu
Xiaofeng Zhu

Funding

GENETIC ANALYSIS OF COMMON DISEASES: AN EVALUATIONR01GM031575 · NIGMS · UNIVERSITY OF TEXAS RIO GRANDE VALLEY · PI ALMASY, LAURA A. · 1985 to 2016
$7.8M
Statistical methods for analyzing high-throughput genotype dataR01HG003054 · NHGRI · LOYOLA UNIVERSITY CHICAGO · PI ZHU, XIAOFENG · 2005 to 2017
$3.6M
Fine Mapping of Hypertension Genes Detected by Admixture Mapping in the FBPPR01HL086718 · NHLBI · CASE WESTERN RESERVE UNIVERSITY · PI ZHU, XIAOFENG · 2007 to 2011
$3.3M
Statistical Methods for Gene Mapping Studies in Admixed PopulationsR01HG005854 · NHGRI · UNIVERSITY OF PENNSYLVANIA · PI LI, MINGYAO · 2010 to 2012
$978k
NHGRI NIH HHS HG003054NHGRI NIH HHS HG005854NHGRI NIH HHS R01 HG003054NHGRI NIH HHS R01 HG005854NHLBI NIH HHS HL086718NHLBI NIH HHS R01 HL086718NIGMS NIH HHS R01 GM031575
6 · The paper itself

Abstract

Next-generation sequencing technology provides new opportunities and challenges in the search for genetic variants that underlie complex traits. It will also presumably uncover many new rare variants, but exactly how these variants should be incorporated into the data analysis remains a question. Several papers in our group from Genetic Analysis Workshop 17 evaluated different methods of rare variant analysis, including single-variant, gene-based, and pathway-based analyses and analyses that incorporated biological information. Although the performance of some of these methods strongly depends on the underlying disease model, integration of known biological information is helpful in detecting causal genes. Two work groups demonstrated that use of a Bayesian network and a collapsing receiver operating characteristic curve approach improves risk prediction when a disease is caused by many rare variants. Another work group suggested that modeling local rather than global ancestry may be beneficial when controlling the effect of population structure in rare variant association analysis.

Indexed as

Genetic VariationModels, GeneticBayes TheoremExomeGene-Environment InteractionGenetic Predisposition to DiseaseHuman Genome ProjectHumansMolecular EpidemiologyPolymorphism, Single NucleotideSequence Analysis

Identifiers

PMID22128058
PMCPMC3250084

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.