Evidence map›Paper›PMID 20560037›Full record

ReviewJournal of cardiovascular translational research2010

The genome-wide association study--a new era for common polygenic disorders.

Robert Roberts, George A Wells, Alexandre F R Stewart, Sonny Dandona, Li Chen

Abstract readReview
PubMed Publisher
In one paragraph

Review in Journal of cardiovascular translational research, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
15citing papers in PubMed, 2 pooled it
–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

15 citing papers in PubMed, 2 syntheses or guidelines pooled it.

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  12. Genetic variation and its role in malignancy.International journal of biomedical science : IJBS · 2011
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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

5 authors.

Robert RobertsThe Ruddy Canadian Cardiovascular Genetics Centre, Ottawa, Ontario, Canada. rroberts@ottawaheart.ca
George A Wells
Alexandre F R Stewart
Sonny Dandona
Li Chen

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

This review covers the advances made in the last decade utilizing the high-density single-nucleotide microarrays to screen the entire human genome for genetic risk variants and outlines future strategies to draw deeper into the human genetic front. The sequence of the human genome provides the blueprint for life, while its variation provides the spice of life. Approximately 99.5% of the human genome DNA sequence is identical among humans with 0.5% of the genome sequence (15 million bps) accounting for all individual differences including susceptibility for disease. The new technology of the computerized chip array containing up to millions of SNPs as DNA markers makes possible genome-wide association studies to detect genetic predisposition to common polygenic disorders such as coronary artery disease (CAD). The sample sizes required for these studies are massive and large; worldwide consortiums such as CARDIoGRAM have been formed to accommodate this requirement. The progress has been remarkable with the identification of 9p21 followed by several others within the past 2 years. It is expected that most of the common variants (minor allele frequency, MAF >5%) will be identified for CAD within the next 2 to 3 years. Rare variants (MAF <5%) will require direct sequencing which will be delayed somewhat. The ultimate objective for the future is the sequencing and functional analysis of the causative polymorphisms. This will require a new approach involving several disciplines, namely, bioinformatics, high-throughput cell expression, and animal models.

Indexed as

Genome-Wide Association StudyPolymorphism, Single NucleotideAnimalsChromosomes, Human, Pair 9Coronary Artery DiseaseDatabases, GeneticGene Expression ProfilingGene FrequencyGenetic Predisposition to DiseaseHumansMeta-Analysis as TopicMultifactorial InheritanceOligonucleotide Array Sequence AnalysisPhenotypeRisk AssessmentRisk Factors

Identifiers

What OpenQuestion holds

Textmetadata
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.