• We mapped all estrogen receptor and RNA polymerase II binding sites on a genome-wide scale, identifying the authentic cis binding sites and target genes, in breast cancer cells. (nature.com)
  • Inborn defects in genes controlling genome stability underlie inherited cancer predisposition and neurodegeneration whereas somatic loss of genome stability drives sporadic cancer, and is associated with ageing. (lumc.nl)
  • An international research team involving scientists at the Technical University of Munich (TUM), the Max Planck Institute for Molecular Genetics (MPIMG) in Berlin and Harvard University in Cambridge (USA) has now investigated the mechanisms responsible for the deactivation of the genes. (mpg.de)
  • They used machine learning to track how the organization of the genome was altered over time, and how easy it is to access certain regions so that the genes they contain can be expressed. (labroots.com)
  • Adaptive evolution of genes and genomes. (cdc.gov)
  • The animals have the smallest genome of non-bony fishes and the slowest-evolving genes among vertebrates, a study suggests. (sciencenews.org)
  • More human disease genes have been discovered in Utah than in any other place in the world,' says Ray Gesteland, Distinguished Professor Emeritus of Human Genetics and former Vice President for Research at the University of Utah. (utah.edu)
  • That's comparable to the number of genes many scientists now think the human genome contains. (sciencenews.org)
  • As a result of the rapid advances in genetics technology and the Human Genome Project, most of the estimated 100,000 genes in humans will be identified by the year 2005 (1). (cdc.gov)
  • The leading genome research centers and scientists have publicly recognized that these are the core enabling goals for the next decade genomics research. (springer.com)
  • The National Human Genome Research Institute (NHGRI) has echoed this need through its vision for genomics research (Collins et al. (springer.com)
  • Researchers in Human Genetics and Genomics Advances report that how researchers describe genomic studies may alienate potential participants. (genomeweb.com)
  • The African Society of Human Genetics (AfSHG) is a learned society and professional membership organization focused on the study of human genetics and genomics in Africans, and open to researchers who are interested in the subject. (wikipedia.org)
  • Mere weeks before its official start, the genomics X Prize - intended to spur a revolution in fast, cheap and accurate human-genome sequencing - has been abruptly cancelled. (newscientist.com)
  • CDC's Office of Public Health Genomics in the Center for Surveillance, Epidemiology, and Laboratory Services is hosting a webinar series focusing on unique topic related to genetics and genomics. (cdc.gov)
  • For the future direction, we need the in-depth genome sequence information and analysis for most of the mammals, including human to fully understand genome variation of economic traits, genetic susceptibility to diseases, and pharmacogenomics of drug response. (springer.com)
  • The program encompasses basic as well as patient-oriented (translational) research and includes the use of various model systems (such as yeast, worms, mice and mammalian cell culture), and state-of-the-art technologies (e.g. next generation sequence technologies, genome- and proteome-wide screens). (lumc.nl)
  • The paper, entitled 'Sequence variant on 8q24 confers susceptibility to urinary bladder cancer,' will appear today in the online edition of Nature Genetics at www.nature.com/ng. (decode.com)
  • Despite promises of personalized medical care for the masses, genetic data has mostly been confined to research settings in the 21 years since an international group of scientists published the first analysis of the human genome sequence, Eric Topol, founder and director of Scripps Research Translational Institute, recently wrote. (bnnbloomberg.ca)
  • We can write out the sequence of the genome, but the three-dimensional structure of the molecule is important to its function as well. (labroots.com)
  • A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms. (cdc.gov)
  • Cole ST , Brosch R , Parkhill J , Garnier T , Churcher C , Harris D , Deciphering the biology of Mycobacterium tuberculosis from the complete genome sequence. (cdc.gov)
  • The genome sequence was generated from three Neandertal fossils from Croatia using high-throughput sequencing technologies. (mpg.de)
  • The genome sequence was generated from a toe bone, called Denisova 5, discovered in Denisova Cave in southern Siberia in 2010. (mpg.de)
  • The genome sequence of a Denisovan individual was generated from a small fragment of a finger bone discovered in Denisova Cave in southern Siberia in 2008. (mpg.de)
  • Announced seven years ago, the prize asked companies to design devices that could sequence 100 human genomes in 30 days or less, with additional requirements for accuracy and cost. (newscientist.com)
  • Now researchers at St. Jude Children's Research Hospital have generated a three-dimensional map of the mouse genome for the first time. (labroots.com)
  • Approximately 74% of the nucleotides comprising coding sequences and splice junctions in the mouse genome were covered at least three times. (nih.gov)
  • It may not mean much to Wall Street investors, but researchers worldwide were delighted to hear on May 6 that the mouse genome had finally gone public. (sciencenews.org)
  • The mouse genome is about 15 percent smaller than the human genome, according to the geneticists. (sciencenews.org)
  • Another mouse genome has been available for about a year, but not for free. (sciencenews.org)
  • Celera, the Rockville, Md., company that sequenced the human genome, also completed a mouse genome, but researchers need to pay a subscription fee to access the data. (sciencenews.org)
  • After a degree in genetics from Cambridge University and PhD in medical genetics from Trinity College Dublin he subsequently started to work on the genetics of each species present on that farm, including Irish humans, and has done for over 30 years. (maynoothuniversity.ie)
  • Summary information is provided here on the outcome of the meetings held during the last three months of 1997, in which the ethical, scientific and social implications of cloning were discussed in relation to the potential biomedical applications of this technique in such areas of human health as reproductive health, xenotransplantation and medical genetics. (who.int)
  • Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2023 5 40 (6): 641-647. (cdc.gov)
  • Furthermore, this resource has allowed the identification of cis -regulatory sites in previously unexplored regions of the genome and the cooperating transcription factors underlying estrogen signaling in breast cancer. (nature.com)
  • The researchers also identified interactions between regions of the genome that encourage expression - promotors and enhancers, at different retinal development stages. (labroots.com)
  • The 1000 Genomes Project Consortium has recently published an important early contribution to a new generation of systematic surveys of rare human genetic variation. (biomedcentral.com)
  • A new study from the 1000 Genomes Project Consortium [ 1 ], which is officially the Phase 1 publication, marks a watershed moment in population genetics. (biomedcentral.com)
  • The newest era of data generation in population genetics, in part ushered in by the 1000 Genomes Project, is one of comprehensive characterization of rare variants within a species. (biomedcentral.com)
  • The 1000 Genomes Project has produced genomes for 1,092 individuals from a diverse set of populations, with an average coverage of 80× in the exomes and 4 to 5× coverage for the rest of the genome. (biomedcentral.com)
  • Both of these avenues have been explored by the 1000 Genomes Project Consortium. (biomedcentral.com)
  • The 1000 Genomes Project has taken advantage of how most rare variants are only weakly affected by selection. (biomedcentral.com)
  • Yes, the cost of genome sequencing has plummeted, which explains why the prize had dropped its cost goal to $1000 per genome . (newscientist.com)
  • André Blavier, scientific director at Sophia Genetics, said: "The combined use of SOPHiA and Alamut Genova provides clinical researchers with a unique and complete solution, supporting them all the way from precise genomic variant detection to proper interpretation. (pharmaphorum.com)
  • This conference will showcase the application of genomic techniques to understand genomes and how they vary across changing environments. (genetics.org.uk)
  • The preprint focuses on the new WashU Virus Genome Browser, a web-based portal for viewing virus genomic data. (wustl.edu)
  • We sequenced the genome of a ~50 thousand year old female Neandertal (Vi33.19) from Vindija Cave, Croatia to ~30-fold genomic coverage. (mpg.de)
  • The AfSHG was established in 2003 to give African scientists and policymakers the knowledge and infrastructure to contribute to genomic research, to promote African researchers internationally, and to "foster genetics research in Africa to generate knowledge for the prevention of disease and the promotion of health. (wikipedia.org)
  • Genome editing (also called gene editing) is a group of technologies that give scientists the ability to change an organism's DNA. (medlineplus.gov)
  • Reykjavik, ICELAND, September 14, 2008 - Scientists at deCODE genetics (Nasdaq:DCGN) and colleagues at Radboud University Medical Center in the Netherlands today report the discovery of two common single-letter variants in the human genome (SNPs) that confer increased risk of urinary bladder cancer. (decode.com)
  • In this work, the scientists concentrated on the genomes contained in the nuclei of rod cells in the mouse retina, which sense light. (labroots.com)
  • It also aims to create national-level human genetics societies, and to provide an environment where African scientists can network and collaborate. (wikipedia.org)
  • Those scientists have now assembled the sequences, which cover more than 95 percent of the rodent's DNA, and made the draft genome available for free over the Internet. (sciencenews.org)
  • With the ongoing developments of high throughput sequencing machines and advancement of modern bioinformatics tools at unprecedented pace, the target goal of sequencing individual genomes of living organism at a cost of $1,000 each is seemed to be realistically feasible in the near future. (springer.com)
  • The completion of the first human genome drafts (Yamey 2000 ) was just a start of the modern DNA sequencing era which resulted in further invention, improved development toward new advanced strategies of high-throughput DNA sequencing, so called the " high-throughput next generation sequencing " (HT-NGS). (springer.com)
  • During this period, tremendous success has been achieved in the fields of decoding of human genome, technological advancement of new era of human genome applications, toward personalized genomes and discovery of rare variants, leveraging genome sequencing to impact on cancer researches and mammalian evolution and population structure. (springer.com)
  • Bloomberg) -- Illumina Inc. says it can read a person's entire genetic code for as little as $200 with its new sequencing machine, bringing the company within reach of its long-promised goal of the $100 genome. (bnnbloomberg.ca)
  • Whole-genome sequencing can provide a far clearer, more accurate view of patients' genetic makeup that doctors can use to precisely identify some diseases, including certain forms of cancer and heart disease. (bnnbloomberg.ca)
  • More efficient machinery and materials reduce customer cost to sequencing one genome, or the complete set of genetic material, Illumina said, adding that costs would range from less than $200 per genome, with discounts for bulk use, to $240 for a higher-quality analysis. (bnnbloomberg.ca)
  • He pioneered the molecular genetic analysis of Irish populations, particularly co-analysis with surnames and the sequencing of the genomes of people who lived here thousands of years ago. (maynoothuniversity.ie)
  • Whole-genome sequencing of non-model organisms is now widely accessible and has allowed a range of questions in the field of molecular ecology to be investigated with greater power. (lu.se)
  • Approximately 30-fold coverage of the genome was generated using the Illumina GAIIx sequencing platform. (mpg.de)
  • Today, companies are routinely sequencing human genomes for less than the $10,000 per genome the prize originally required. (newscientist.com)
  • Given that the genome-sequencing industry has annual revenues in the billions of dollars , it is perhaps no surprise that a $10 million prize did not prove a huge incentive. (newscientist.com)
  • While fast, cheap and somewhat inaccurate genomes may be good enough for research projects, Venter argues that high accuracy will be paramount as we move towards a future in which genome sequencing is used routinely for medical diagnosis. (newscientist.com)
  • Our study demonstrates the speed and utility of whole genome sequencing coupled with low resolution meiotic mapping as a means of identifying causative mutations induced by ENU. (nih.gov)
  • Well, genetics is kind of like that perfect balance between math and biology so- It's so-- It's understanding the natural world and these principles going on in it but using a mathematical framework in order to understand the process so it's for me perfect. (bigthink.com)
  • It will provide a forum to discuss recent advances in plant genome biology aiming at the elucidation of gene function and networks, natural and induced variation and their implications in agricultural breeding programmes. (genetics.org.uk)
  • A lack of understanding of this fact is typical for modern genetics and molecular biology. (wavegenetics.org)
  • So we call them sort of mutations that are polymorphic, multiple forms in the population, and I looked across the genome at every single one and said how common is it, how prevalent is it in the population, and then I used a framework looking at the- what's going on in that region of the genome to date the mutation, to say how long ago it happened. (bigthink.com)
  • The Wang Lab's WashU Virus Genome Browser manuscript, "Exploring the coronavirus pandemic using the WashU Virus Genome Browser," was accepted for publication in Nature Genetics. (wustl.edu)
  • The Wang Lab has a new preprint, "Exploring the coronavirus epidemic using the new WashU Virus Genome Browser. (wustl.edu)
  • Rotations are arranged by the student with prospective research advisors selected from Genetics and Genome Sciences (for students who elected Genetics and Genome Sciences as their priority program) or from any member of the BSTP program (for other students). (case.edu)
  • In the Department of Genetics and Genome Sciences this usually takes the form of two first author manuscripts. (case.edu)
  • Congratulations Jake Reske on winning this year's MSU Genetics and Genome Sciences (GGS) Program Outstanding Student Award! (msu.edu)
  • The Swiss medical data firm Sophia Genetics has launched the latest iteration of its "genome browser" software, which uses artificial intelligence (AI) to help researchers assess whether errors in the DNA code are leading to diseases such as cancer. (pharmaphorum.com)
  • To bring together researchers from different disciplines working with this kind of data, we organise the biennial workshop 'Biometrical Aspects of Genome Analysis' in cooperation with the working group Human Genetics from the GMDS and the working group Genetic Epidemiology from the DGEpi. (biometrische-gesellschaft.de)
  • Researchers at the University of Tartu-based Estonian Genome Centre are among the lead authors on a new study of the genetics of stroke that appeared last month in the journal Nature . (researchinestonia.eu)
  • According to Lili Milani , head of the Estonian Genome Centre and a professor at the University of Tartu , Estonian researchers contributed to the study in multiple ways, including running analyses on stroke subjects from the Estonian Biobank, a repository of roughly 200,000 participants, all of whom have been genotyped using the Illumina Global Screening Array. (researchinestonia.eu)
  • The mouse researchers plan to publish their formal analysis of the genome later this year. (sciencenews.org)
  • variants will be integrated into the deCODEme™ personal genome scan. (decode.com)
  • As with all of our discovery work, we seek to publish our findings and establish a solid intellectual property position in order to bring these swiftly into the healthcare arena, and have already folded these variants into our deCODEme™ personal genome analysis service. (decode.com)
  • DNA sequences were generated on the Illumina HiSeq platform and constitute an average 50-fold coverage of the genome. (mpg.de)
  • 99.9% of the 1.7GB of uniquely mappable DNA sequences in the human genome are covered at least ten times. (mpg.de)
  • These advances are adding value to short-read genome resequencing approaches by allowing, for example, more accurate haplotype phasing across longer regions. (lu.se)
  • Genome-caretaking mechanisms counteract the deleterious effects of DNA damage and are essential to prevent toxicity, mutations, genome instability, ageing and disease. (lumc.nl)
  • According to Milani, while the Estonian Genome Centre has participated in large genome-wide association studies in the past, the new study on stroke is an example of where the centre has played a more active part than merely running the analysis on the biobank cohort and making the summary statistics available for meta-analysis. (researchinestonia.eu)
  • Epigenetic regulation of gene expression: How the genome integrates intrinsic and environmental signals. (bvsalud.org)
  • Most of the changes introduced with genome editing are limited to somatic cells, which are cells other than egg and sperm cells (germline cells). (medlineplus.gov)
  • Detection and effects of structural variation and polymorphic transposable element insertions in diverse mouse genomes. (uconn.edu)
  • The history of population genetics has involved a continual interplay between observations of genetic data and prevailing theories of the dominant processes shaping variation. (biomedcentral.com)
  • Though Africa is home to the widest range of human genetic variation, it trails the West in biomedical research and many of its countries do not have departments of human genetics. (wikipedia.org)
  • Figure 1: Genome-wide association results at autosomal SNPs in combined UK and German discovery samples. (nature.com)
  • A classic example of the power of new data in population genetics is how the observation of the clock-like rate of amino acid substitutions between species, together with early surveys of allozyme polymorphism dating back to the 1960s, helped fuel the development of the neutral theory by Motoo Kimura and colleagues [ 2 ]. (biomedcentral.com)
  • Indeed, the development of new theories and perspectives as a result of breakthroughs in data generation is a repeating feature in the history of population genetics. (biomedcentral.com)
  • The obtained genomes represent some the latest surviving Neandertals in Europe and have allowed for the reconstruction of the late Neandertal population history (Hajdinjak et al, 2018, https://www.nature.com/articles/nature26151 ). (mpg.de)
  • Year 2011 is celebrated as the 10th anniversary since the human genome was first sequenced ( www.nature.com/natureconferences/hg10years/index.html ). (springer.com)
  • We conducted a genome-wide association study (GWAS) for ischemic stroke and its subtypes in 3,548 affected individuals and 5,972 controls, all of European ancestry. (nature.com)
  • Conducted by Françoise Baylis and Timothy Krahn of Dalhousie University, and myself and Marcy Darnovsky of the Center for Genetics and Society, this research is the most comprehensive study of policies on human genome editing to date, more than doubling the number of countries examined in previous studies. (geneticsandsociety.org)
  • After completion of research objectives, a formal written thesis, oral defense, and formal seminar presentation complete the program of study, and a Ph.D. in Genetics is awarded by Case. (case.edu)
  • We study this phenomenon in osteosarcoma, a childhood malignancy that harbors one of the most rearranged genomes in cancer. (lu.se)
  • As part of its work in the genome-wide association study, the Estonian team involved a cohort of individuals with early onset stroke from Tartu University Hospital, recruited by Riina Vibo and Janika Kõrv. (researchinestonia.eu)
  • Genome BC respectfully acknowledges that our office space is located on the unceded traditional territories of the Coast Salish peoples, including the territories of the xʷməθkwəy̓əm (Musqueam), Səl̓ílwətaʔ/Selilwitulh (Tsleil-Waututh) and Skwxwú7mesh (Squamish) Nations, the traditional custodians of these lands. (genomebc.ca)
  • Even the recent report by the International Commission on Clinical Uses of Human Germline Genome Editing follows this pattern: It acknowledges the existence of the numerous laws about heritable genome editing only with the phrase "many countries" prohibit it, and mentions the Oviedo Convention only in a footnote. (geneticsandsociety.org)
  • This website is a comprehensive collection of information relevant to the Human Genome Project (HGP). (bvsalud.org)
  • Germline cell and embryo genome editing bring up a number of ethical challenges, including whether it would be permissible to use this technology to enhance normal human traits (such as height or intelligence). (medlineplus.gov)
  • Currently, genome editing is used in cells and animal models in research labs to understand diseases. (medlineplus.gov)
  • An unintended pregnancy while using hormonal contraception may not always be down to the woman's mistake, according to research that suggests for some genetics could play a role. (genomebc.ca)
  • Our research, just published in The CRISPR Journal , shows just how much has been missing: Out of 106 countries we surveyed, 75 prohibit heritable human genome editing. (geneticsandsociety.org)
  • The defense process is designed to ensure that the successful student has a basic foundation in genetics and biomedical science, exposure to and understanding of the development of a research program, and a well-designed thesis research project. (case.edu)
  • The AfSHG was created to fill a gap in the research of human genetics in Africa. (wikipedia.org)
  • the inaugural theme was "Biomedical Research in Africa with Emphasis on Genetics. (wikipedia.org)
  • Yet, the application of genetics research in the promotion of health and the prevention of disease and disability has been explored only minimally. (cdc.gov)
  • The complex and controversial issues concerning genetics research that have emerged (e.g., the quality of laboratory testing, the rapid commercialization of genetic tests, and the potential for discrimination and stigmatization) require public health leadership. (cdc.gov)
  • Many consumers have been introduced to their DNA through relatively low-cost tests like those marketed by 23andMe Holding Co. that analyze small snippets of the genome for clues to disease risk and ancestry. (bnnbloomberg.ca)
  • International Stroke Genetics Consortium & Wellcome Trust Case-Control Consortium 2. (nature.com)
  • My initial interpretation of gene coding ambiguity was far from complete, and this turned out to be much more complicated and interesting, and I developed this topic in four articles in the Open Journal of Genetics, which are part of this monograph. (wavegenetics.org)
  • Their work has revealed new insights into how the genome is organized and what it does during development, which can help us learn more about human developmental disorders. (labroots.com)
  • Insights into the genetics of menopausal vasomotor symptoms: genome-wide analyses of routinely-collected primary care health records. (bvsalud.org)
  • In 2009 we produced a first draft version of the genome of the closest evolutionary relative of present-day humans, the Neandertal. (mpg.de)
  • To obtain mechanistic understanding of genome surveillance mechanisms. (lumc.nl)
  • To improve diagnosis of pathologies caused by impaired genome surveillance mechanisms. (lumc.nl)
  • We showed that this genome is closer to that of the Neandertal introgressing into modern humans than the previously sequenced Altai Neandertal genome. (mpg.de)
  • The Vindija genome allows more Neandertal DNA to be identified in present-day humans. (mpg.de)
  • Hear Dr. Ray Gesteland talk about Utah's unique contribution to genetics. (utah.edu)
  • Two copies of each gene are therefore present in our genome and, as a general rule, both are active. (mpg.de)
  • Understanding the way cells organize their genomes during development will help us to understand their ability to respond to stress, injury and disease,' said Michael Dyer, Ph.D., chair of the St. Jude Department of Developmental Neurobiology and a Howard Hughes Medical Institute investigator. (labroots.com)
  • Thank you for your support to the Genetics Department and the University of Georgia. (uga.edu)
  • After the meeting, Philip Mjwara, the Director General of South Africa's Department of Science and Innovation, urged the Southern African Society of Human Genetics (SASHG)-which had existed since 1986-to affiliate itself with the AfSHG. (wikipedia.org)
  • First-year students choose a thesis advisor by the end of the first semester, as a joint decision by the student, the prospective advisor, and the Genetics Graduate Student Program Committee. (case.edu)
  • Genetics of 7,000-year-old skeleton suggests blond hair, pale skin came later. (sciencenews.org)