Evidence map›Paper›PMID 20823330›Full record

ArticleBioinformatics (Oxford, England)2010

Candidate gene prioritization based on spatially mapped gene expression: an application to XLMR.

Rosario M Piro, Ivan Molineris, Ugo Ala, Paolo Provero, Ferdinando Di Cunto

Abstract readEvaluation Study
In one paragraph

Article in Bioinformatics (Oxford, England), 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

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2 · The registry

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3 · Its place in the literature

Who cites it

8 citing papers in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

5 authors.

Rosario M PiroMolecular Biotechnology Center, Biology and Biochemistry, University of Torino, Torino, Italy. rosario.piro@unito.it
Ivan Molineris
Ugo Ala
Paolo Provero
Ferdinando Di Cunto

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

motivationThe identification of genes involved in specific phenotypes, such as human hereditary diseases, often requires the time-consuming and expensive examination of a large number of positional candidates selected by genome-wide techniques such as linkage analysis and association studies. Even considering the positive impact of next-generation sequencing technologies, the prioritization of these positional candidates may be an important step for disease-gene identification.

resultsHere, we report a large-scale analysis of spatial, i.e. 3D, gene-expression data from an entire organ (the mouse brain) for the purpose of evaluating and ranking positional candidate genes, showing that the spatial gene-expression patterns can be successfully exploited for the prediction of gene-phenotype associations not only for mouse phenotypes, but also for human central nervous system-related Mendelian disorders. We apply our method to the case of X-linked mental retardation, compare the predictions to the results obtained from a previous large-scale resequencing study of chromosome X and discuss some promising novel candidates.

Indexed as

Chromosomes, Human, XAnimalsBrainChromosome MappingGene Expression ProfilingGenome-Wide Association StudyHumansMicePhenotypeX-Linked Intellectual Disability

Identifiers

PMID20823330
PMCPMC2935433

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LicenceCC BY-NC
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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.