Uncovering rare susceptibility variants that contribute to the causes of complex diseases requires large sample sizes and massively parallel sequencing technologies. These sample sizes, often made up of exome and genome data ...
Jun 30, 2017
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Imagine a day when you visit the doctor's office for your annual physical. Your physician orders routine tests - cholesterol, glucose and blood count - but they also order a sequence of your genome, all 3 billion letters ...
Jan 12, 2017
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A team of researchers at Baylor College of Medicine has developed a family-based association test that improves the detection in families of rare disease-causing variants of genes involved in complex conditions such as Alzheimer's. ...
Jan 6, 2017
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Melanoma of the eye presents a case study in the value of diagnosing by phenotype (symptoms and physical presentation) versus assessing risk genotype – a discussion that may impact ongoing efforts to sequence gazillions ...
Sep 2, 2016
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Upbringing and circumstance—and the consequences of a lifetime of decisions—all shape us to varying degrees. And the environment undoubtedly plays some role. But, at the core of it all is our genetics, the foundational ...
May 25, 2016
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Last month marked the 10th anniversary of the landmark paper that launched "connectomics", overthrowing the predominant approach to localizing individual functions in the brain in favor of mapping the entirety of the brain's ...
Oct 16, 2015
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Mixing our genes through sex helps purge us of disease mutations
Feb 16, 2015
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Investigators at Nationwide Children's Hospital have developed an analysis "pipeline" that slashes the time it takes to search a person's genome for disease-causing variations from weeks to hours. An article describing the ...
Jan 30, 2015
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Researchers at the UC Santa Cruz Genomics Institute have received a grant for up to $1 million from the Simons Foundation to develop a comprehensive map of human genetic variation. The Human Genome Variation Map will be a ...
Jan 13, 2015
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Researchers in the United States have identified a molecular network that comprises many of the genes previously shown to contribute to autism spectrum disorders. The findings provide a map of some of the crucial protein ...
Dec 30, 2014
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