Publications by authors named "Mark S Guyer"
For more than 20 years, the Ethical, Legal, and Social Implications (ELSI) Program of the National Human Genome Research Institute has supported empirical and conceptual research to anticipate and address the ethical, legal, and social implications of genomics. As a component of the agency that funds much of the underlying science, the program has always been an experiment. The ever-expanding number of issues the program addresses and the relatively low level of commitment on the part of other funding agencies to support such research make setting priorities especially challenging.
View Article and Find Full Text PDFThere has been much progress in genomics in the ten years since a draft sequence of the human genome was published. Opportunities for understanding health and disease are now unprecedented, as advances in genomics are harnessed to obtain robust foundational knowledge about the structure and function of the human genome and about the genetic contributions to human health and disease. Here we articulate a 2011 vision for the future of genomics research and describe the path towards an era of genomic medicine.
View Article and Find Full Text PDFWe systematically generated large-scale data sets to improve genome annotation for the nematode Caenorhabditis elegans, a key model organism. These data sets include transcriptome profiling across a developmental time course, genome-wide identification of transcription factor-binding sites, and maps of chromatin organization. From this, we created more complete and accurate gene models, including alternative splice forms and candidate noncoding RNAs.
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- The study analyzes over 3 million genetic variations from the International HapMap Project to identify regions of the human genome that have undergone positive natural selection.
- Using advanced methods, researchers pinpointed over 300 candidate regions, specifically narrowing down to 22 strong areas for further scrutiny.
- The analysis highlights 26 specific gene variations under positive selection, demonstrating similar evolutionary pressures in related genes across different populations, including regions tied to virus infection and traits like skin pigmentation and hair follicle development.
We describe the Phase II HapMap, which characterizes over 3.1 million human single nucleotide polymorphisms (SNPs) genotyped in 270 individuals from four geographically diverse populations and includes 25-35% of common SNP variation in the populations surveyed. The map is estimated to capture untyped common variation with an average maximum r2 of between 0.
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- - The study reports on experiments analyzing a targeted 1% of the human genome during the ENCODE Project's pilot phase, providing crucial insights into human genome function.
- - Findings reveal that the human genome is largely transcribed, with evidence showing that most genomic bases contribute to various types of transcripts, including those that do not code for proteins.
- - Enhanced understanding of transcription regulation, chromatin structure, and evolutionary insights from comparisons between species help define the functional landscape of the human genome, guiding future research in genome characterization.