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Integrating common and rare genetic variation in diverse human populations

Posted Wed, 01/09/2010 - 18:30
DOI: 
10.1038/nature09298
URL: 
http://feeds.nature.com/~r/nature/rss/current/~3/rgFvZn3mymg/nature09298

Here, the analysis of 'HapMap 3' is reported — a public data set of genomic variants in human populations. The resource integrates common and rare single nucleotide polymorphisms (SNPs) and copy number polymorphisms (CNPs) from 11 global populations, providing insights into population-specific differences among variants. It also demonstrates the feasibility of imputing newly discovered rare SNPs and CNPs.

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Time for the epigenome

Posted Thu, 04/02/2010 - 15:45
DOI: 
10.1038/463587a
URL: 
http://feeds.nature.com/~r/nature/rss/current/~3/HXMtqZlL4Po/463587a

The complexity of genetic regulation is one of the great wonders of nature, but it represents a daunting challenge to unravel. The International Human Epigenome Consortium is an appropriate response.

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Decoding a national treasure

Posted Thu, 21/01/2010 - 11:59
DOI: 
10.1038/463303a
URL: 
http://feeds.nature.com/~r/nature/rss/current/~3/UdRjximzBqg/463303a

The giant-panda genome is the first reported de novo assembly of a large mammalian genome achieved using next-generation sequencing methods. The feat reflects a trend towards ever-decreasing genome-sequencing costs.

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A genome-wide linkage and association scan reveals novel loci for autism

Posted Fri, 09/10/2009 - 16:55
DOI: 
10.1038/nature08490
URL: 
http://feeds.nature.com/~r/nature/rss/current/~3/Ar2u6V6jxzo/nature08490

Although autism is a highly heritable neurodevelopmental disorder, attempts to identify specific susceptibility genes have thus far met with limited success. Genome-wide association studies using half a million or more markers, particularly those with very large sample sizes achieved through meta-analysis, have shown great success in mapping genes for other complex genetic traits.

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Finding the missing heritability of complex diseases

Posted Fri, 09/10/2009 - 16:51
URL: 
http://feeds.nature.com/~r/nature/rss/current/~3/Pn5Zw3aErPg/nature08494

Genome-wide association studies have identified hundreds of genetic variants associated with complex human diseases and traits, and have provided valuable insights into their genetic architecture. Most variants identified so far confer relatively small increments in risk, and explain only a small proportion of familial clustering, leading many to question how the remaining, ‘missing’ heritability can be explained.

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Post-publication sharing of data and tools

Posted Wed, 09/09/2009 - 00:00
DOI: 
10.1038/461171a
URL: 
http://dx.doi.org/10.1038/461171a

Despite existing guidelines on access to data and bioresources, good practice is not widespread. A meeting of mouse researchers in Rome proposes ways to promote a culture of sharing.

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Information overload

Posted Wed, 29/07/2009 - 00:00
DOI: 
10.1038/460551a
URL: 
http://dx.doi.org/10.1038/460551a

A report released last week by the US National Academies makes recommendations for tackling the issues surrounding the era of petabyte science.

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Inspiring non-scientists

Posted Wed, 29/07/2009 - 00:00
URL: 
http://dx.doi.org/10.1038/460552a

Those wishing to reveal scientific ideas should learn from the engaging style of TED conference talks.

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Copy number variation at 1q21.1 associated with neuroblastoma

Posted Wed, 17/06/2009 - 19:00
URL: 
http://dx.doi.org/10.1038/nature08035
Common copy number variations (CNVs) represent a significant source of genetic diversity, yet their influence on phenotypic variability, including disease susceptibility, remains poorly understood. To address this problem in human cancer, we performed a genome-wide association study of CNVs in the childhood cancer neuroblastoma, a disease in which single nucleotide polymorphism variations are known to influence susceptibility.
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Unlocking the secrets of the genome

Posted Wed, 17/06/2009 - 00:00
URL: 
http://dx.doi.org/10.1038/459927a
Despite the successes of genomics, little is known about how genetic information produces complex organisms. A look at the crucial functional elements of fly and worm genomes could change that.
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