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Elaine Mardis

Dr. Elaine Mardis on next-generation sequencing technologies

On Wednesday, July 30, Elaine Mardis, Ph.D., Director of Technology Development for The Genome Institute at Washington University in St. Louis, presented Next-Generation Sequencing Technologies, the 14th and final lecture for the 2014 Current Topics in Genome Analysis (CTGA) series. Dr. Mardis is a preeminent leader in the field of next-generation sequencing. YouTube video View the video
Read about the 2014 CTGA series

FDA logo

FDA proposes oversight of laboratory-developed tests

The U.S. Food and Drug Administration (FDA) has announced steps to ensure that certain tests used by health care professionals to diagnose and treat patients provide accurate, consistent and reliable results. These steps come at a critical time for genomic, or precision, medicine. As more and more genetic tests are developed and marketed, the public must be confident in the accuracy and clinical validity of these tests.
Read the FDA release
Read a statement from NIH Director Francis Collins

Video now available
Julie Segre

The Genomics of Microbes and Microbiomes

In June, Julie Segre, Ph.D., Chief, Translational and Functional Genomics Branch, presented the Current Topics in Genome Analysis lecture: Genomics of Microbes and Microbiomes. Watch the lecture here:
YouTube video View the video
Read about the full series

The Genomics Landscape: A Message from the Director

Undiagnosed Diseases Network: Solving Medical Mysteries

The Undiagnosed Diseases Program (UDP), launched in 2008 as a partnership among NHGRI, the NIH Clinical Center and the Office of Rare Diseases Research, seeks to provide answers to patients with mysterious conditions that have eluded diagnosis. This multidisciplinary clinical and research team has diagnosed ~100 patients, discovered two previously unknown diseases and identified 50 genes not previously associated with any other human disease. Read more

Genome Advance of the Month
Blood vein with DNA helices

Improving the detection of heart transplant rejection with DNA sequencing

With the hope of reducing the risks associated with heart transplants, scientists have been working diligently to develop a new, less invasive method to test for rejection. June's Genome Advance of the Month features research published in the June 18 issue of Science Translational Medicine that demonstrates how sequencing and quantification of cfdDNA can determine whether or not a heart transplant will be rejected. Read more

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