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Developing predictive molecular maps of human disease through community-based modeling

DOI: 
10.1038/ng.1089

 

The inability to identify the molecular causes of disease has led to a disappointing rate of development of new medicines. By combining the power of community-based modeling with broad access to large datasets on a platform that promotes reproducible analyses, we can work toward more predictive molecular maps that can deliver better therapeutics.

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The authorship network of genome-wide association studies

DOI: 
10.1038/ng.1052

Interesting piece in Nature Genetics describing authorship networks for GWAS studies:

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No second thoughts about data access

DOI: 
10.1038/ng.827

More data than we can handle is no excuse to give up our efforts to promote data access, but it may make us think about new ways to make it sustainable.

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Next-generation association studies for complex traits

DOI: 
10.1038/ng0411-287

A new study successfully applies complementary whole-genome sequencing and imputation approaches to establish robust disease associations in an isolated population. This strategy is poised to help elucidate the role of variants at the low end of the allele frequency spectrum in the genetic architecture of complex traits.

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The value of data

DOI: 
10.1038/ng0411-281

Data citation and the derivation of semantic constructs directly from datasets have now both found their place in scientific communication. The social challenge facing us is to maintain the value of traditional narrative publications and their relationship to the datasets they report upon while at the same time developing appropriate metrics for citation of data and data constructs.

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Infectious diseases not immune to genome-wide association

DOI: 
10.1038/ng0910-731

Two genome-wide association studies for meningococcal disease and tuberculosis identify new loci associated with susceptibility to these infectious diseases. They highlight a role for the acquired and innate immune systems in host control of several human pathogens and demonstrate that denser genotyping platforms and population-specific reference panels are necessary for genetic studies in African populations.

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Hints of hidden heritability in GWAS

DOI: 
10.1038/ng0710-558

Although susceptibility loci identified through genome-wide association studies (GWAS) typically explain only a small proportion of the heritability, a classical quantitative genetic analysis now argues that considering together all common SNPs can explain a large proportion of the heritability of these complex traits. A related study provides recommendations for the sample sizes needed in future GWAS to identify additional susceptibility loci.

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Copy number variation and human genome maps

DOI: 
10.1038/ng0510-365

Maps of human genome copy number variation (CNV) are maturing into useful resources for complex disease genetics. Four new studies increase the resolution of CNV maps and seek to locate human phenotypic variation on these maps.

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Integrating with integrity

DOI: 
10.1038/ng0110-1

Article in Nature Genetics:

Data worthy of integration with the results of other researchers need to be prepared to explicit export standards, linked to appropriate metadata and offered with field-specific caveats for use. Data exchange may need to be taught and discussed in handshaking workshops.

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Exome sequencing makes medical genomics a reality

DOI: 
10.1038/ng0110-13

Massively parallel sequencing of the exomes of four individuals with Miller syndrome, combined with filtering to exclude benign and unrelated variants, has identified causative mutations in DHODH. This approach will accelerate discovery of the genetic bases of hundreds of other rare mendelian disorders.

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