The NIH Intramural Sequencing Center
Happy New Year!
The arrival of 2018 brings great anticipation about what this year might bring in terms of amazing genomic advances. Before staring too long into your crystal ball, you might find it interesting to look back at 2017 by checking out the top scientific advances assembled by the journals Science and Nature. While Science's Breakthrough of the Year for 2017 is the cosmic merger of two neutron stars, the runners-up include three relevant to genomics: "pinpoint gene editing," "a cancer drug's broad swipe," and "gene therapy triumph." Nature's list of Science Events that Shaped the Year honors other genomic breakthroughs, collectively calling them a "genetics bonanza." Truly outstanding genomic accomplishments for 2017 - now let's see what 2018 brings us!
All the best,
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The NIH Intramural Sequencing Center
The NIH Intramural Sequencing Center (NISC) sits on the top floor of a research building within an office-park area of Rockville, Maryland - a few miles from the main NIH campus. This unassuming location houses the Center's state-of-the-art, high-throughput DNA sequencing facility. In a rather modest start in 1997 under the leadership of its Founding Director Eric Green, NISC began DNA sequencing with six ABI 377 instruments in lab space borrowed from another NIH institute. The fundamental mission for NISC has remained essentially unchanged in >20 years: provide contemporary genome-sequencing capabilities for intramural researchers at NHGRI and other NIH institutes/centers. Under the current leadership of Director Jim Mullikin, Ph.D., and Deputy Director Jim Thomas, Ph.D., NISC remains true to that mission, regularly generating large amounts of genome-sequence data and analyses for numerous NHGRI and NIH investigators who are pursuing highly diverse research projects.
Despite its modest overall size (compared to the very large genome-sequencing centers), NISC takes pride in maintaining a broad repertoire of technical capabilities. This includes the ability to analyze genomes, epigenomes, and transcriptomes. The Center also aims to stay at the cutting edge of technology advances. The most interesting pivot points in NISC's history occurred with the switch in the late 1990s from slab-gel-based to capillary-based DNA sequencing and then the transition in the mid-2000s from Sanger-based to 'next generation' DNA sequencing platforms.
While keeping pace with such rapidly changing technologies, NISC has collaborated with individual NHGRI and NIH intramural investigators on specific research projects, and also participated in larger research consortia. For example, NISC contributed to the early efforts in sequencing the mouse genome, the most commonly used mammalian model in biomedical research. This foray into comparative genomics prompted NISC to establish a larger comparative vertebrate sequencing project (affectionately referred to as "ZooSeq"), in which sequence data were generated and compared for the same genomic regions in multiple organisms. The latter included important contributions of comparative genomic data to the early phase of NHGRI's ENCyclopedia of DNA Elements (ENCODE) Project. Later, NISC became involved in NIH Common Fund's Human Microbiome Project, in which genome sequencing was used to study the microbial communities that live in and on our bodies.
Over the years, NISC has expanded its genome-sequencing program to include medically-oriented projects that aim to understand the role of genomic variants in human health and disease. One such study, ClinSeq, has been exploring the medical, molecular, and bioinformatic challenges associated with sequencing individual participants' genomes in a clinical research setting.
The list of NISC's research highlights is long and impressive - citing a few examples helps to illustrate the breadth of its scientific contributions. In 2011, NISC researchers were part of a group that was awarded a AAAS Prize for the analysis of the Neanderthal genome. In 2012, NISC's sequencing and analysis efforts helped scientists and clinicians sort out the mystery of a bacterial outbreak in the NIH Clinical Center. In 2013, NISC contributed to the first genomic survey of the fungal diversity in human skin. In 2017, NISC contributed to a study that discovered new regions of the human genome linked to skin color variation.
NISC's list of publications illustrates the diversity of projects in which it has been involved. Often not emphasized in such publications, though, is NISC's continued commitment to implement new technologies and methods, to improve the quality and efficiency of its DNA-sequencing pipelines, and to continually advance its data-analysis capabilities. In 2017 alone, NISC generated over 90 trillion bases of DNA sequence data. This continual forward-evolution has served NISC well since its founding, and points to a style that will keep the Center valuable for NHGRI and NIH going forward.
About The Genomics Landscape
A monthly update from the NHGRI Director on activities and accomplishments from the institute and the field of genomics.
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Last updated: January 9, 2018