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Genomics' daunting challenge: Identifying variants that matter

In a paper appearing April 24, 2014, in the journal Nature, authors recommended a set of genomic approaches to implicating rare, inherited variants involving one or a handful of genes that have large effects on an individual's risk for developing rare diseases. These same approaches might help researchers identify variants that affect complex diseases such as cancer and cardiovascular disease.
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Defining functional DNA elements in the human genome

Researchers from the Encyclopedia of DNA Elements, or ENCODE, consortium have published a perspective article in the April 21, 2014 publication of the Proceedings of the National Academy of Sciences. The article examines issues arising from the varying definitions and measurement of genomic function. Read more

NIH Clinical Center

NIH program to jump-start genomic medicine

A new, two-year NIH initiative called the Clinical Center Genomics Opportunity (CCGO) will build an infrastructure for clinical genomic sequencing so clinical researchers can use genomic data for clinical research. CCGO will underwrite the DNA sequencing and analysis of 1,000 exomes, the functionally important 1-2 percent of the genome that codes for proteins. Read more

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Tyra Wolfsberg

Genome-Scale Sequence Analysis

On Wednesday, March 19th, Tyra Wolfsberg, Ph.D., associate director, Bioinformatics and Scientific Programming Core, presented Genome-Scale Sequence Analysis, part of the Current Topics in Genome Analysis (CTGA) lecture series. YouTube video Watch the video
Read about the lecture series

Svante Pääbo

Finding Our Inner Neanderthal: Evolutionary Geneticist Svante Pääbo's DNA Quest

In 2010, Svante Pääbo, a director at the Max Planck Institute for Evolutionary Anthropology, shook the scientific world with a study that concluded that Neanderthals left a legacy that survives in the DNA of many people today. See a recent lecture video from the Smithsonian where Pääbo discusses that study.
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