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Inthis lesson students will enter the world of the genome, learning about humanhistory and evolution by examining information about human, Neanderthal, andchimpanzee DNA. Using web interactives and videosfrom The Human Spark, studentswill be introduced to the ambitious Human Genome Project, learn about thegenetic similarities and differences between human beings and our hominidancestors, explore how specific genes manifest themselves in differentorganisms, and discover how genetic information can help us trace a path ofhuman migration all the way back to our earliest ancestors.

The 1000 Genomes Project is an international collaboration to produce an extensive public catalog of human genetic variation, including SNPs and structural variants, and their haplotype contexts. This resource will support genome-wide association studies and other medical research studies. The genomes of about 2500 unidentified people from about 25 populations around the world will be sequenced using next-generation sequencing technologies. The results of the study will be freely and publicly accessible to researchers worldwide. Further information about the project is available in the About tab. Information about downloading, browsing or using the 1000 Genomes data is available in the Data tab.

The Human Genome Project (HGP) was one of the great feats of exploration in history - an inward voyage of discovery rather than an outward exploration of the planet or the cosmos; an international research effort to sequence and map all of the genes - together known as the genome - of members of our species, Homo sapiens. Completed in April 2003, the HGP gave us the ability, for the first time, to read nature's complete genetic blueprint for building a human being.

On June 14, 2013, the Smithsonian Institution in Washington, D.C. opened the high-tech, high-intensity exhibition Genome: Unlocking Life's Code to celebrate the 10th anniversary of researchers producing the first complete human genome sequence - the genetic blueprint of the human body - in April 2003. The exhibition is a collaboration between the Smithsonian's National Museum of Natural History (NMNH) and the National Human Genome Research Institute (NHGRI) of the National Institutes of Health.

Your genome, every human's genome, consists of a unique DNA sequence of A's, T's, C's and G's that tell your cells how to operate. Thanks to technological advances, scientists are now able to know the sequence of letters that makes up an individual genome relatively quickly and inexpensively. Mark J. Kiel takes an in-depth look at the science behind the sequence.

The most recent human retroviral infections leading to germ line integration took place with a subgroup of human endogenous retroviruses called HERVK(HML-2). The human genome contains ~90 copies of these viral genomes, which might have infected human ancestors as recently as 200,000 years ago. HERVs do not produce infectious virus: not only is the viral genome silenced - no mRNAs are produced - but they are littered with lethal mutations that have accumulated over time. A recent study revealed that HERVK mRNAs are produced during normal human embryogenesis. Viral RNAs were detected beginning at the 8-cell stage, through epiblast cells in preimplantation embryos, until formation of embryonic stem cells (illustrated). At this point the production of HERVK mRNA ceases. Viral capsid protein was detected in blastocysts, and electron microscopy revealed the presence of virus-like particles similar to those found in reconstructed HERVK particles. These results indicate that retroviral proteins and particles are present during human development, up until implantation.

More than 400 scientists, bioethicists, and historians from 20 countries on 6 continents have gathered this week in Washington, DC, for the Human Gene Editing Summit. The attendees are a veritable who's who of genome editing: Jennifer Doudna of the University of California, Berkeley, Emmanuelle Charpentier of Max Planck Institute for Infection Biology, and Feng Zhang of the Broad Institute of MIT and Harvard-the three discoverers of the CRISPR-Cas9 system's utility in gene editing-plus dozens of other big names in genome science. Cal Tech's David Baltimore along with the heads of the four national societies hosting the meeting (US National Academy of Sciences, US National Academy of Medicine, Chinese Academy of Sciences, and the U.K.'s Royal Society) provided opening remarks on Tuesday (December 1). And as I sat stage right in the NAS auditorium, I noticed the unmistakable rear profile of Harvard Medical School's George Church three rows in front of me. Church was scheduled to speak at a session later that afternoon about the application of CRISPR and other new precision gene editing techniques to the human germline-a hot-button topic since April, when a Chinese group published it had successfully modified the genomes of human embryos, and the National Institutes of Health (NIH) said it would not fund such research. Then in September, the U.S./U.K.-based Hinxton Group, an international consortium of scientists, policy experts, and bioethicists, said it supported the use of genetic editing in human embryos for limited applications in research and medicine.  

Genetic studies of human disease are more challenging to perform in sub-Saharan Africa because genetic diversity is greater than in other populations. This pilot will increase our understanding of African genome variation and enable the design of large-scale genetic association studies in the region. Studies into the genetic basis of disease in European populations have made major advances in the past few years, yet similar studies in sub-Saharan Africa have been slower to develop. The high level of genetic diversity that exists in populations from sub-Saharan Africa makes genetic associations with disease more difficult to identify. The African Genome Variation Project aims to collect essential information about the structure of African genomes to provide a basic framework for genetic disease studies in Africa.

This video segment adapted from NOVA scienceNOW examines the realm of personal DNA testing. It describes the latest tests, which look for single-nucleotide polymorphisms (SNPs). These single-letter differences in DNA sequence make humans unique from one another but may also predispose people to certain diseases. The video also discusses the Personal Genome Project, an extension of the Human Genome Project aimed at determining the root causes of many common diseases. The Personal Genome Project takes into account personal genomics as well as lifestyle information, such as one's living environment, habits, and behaviors.

In this video segment from NOVA: "Cracking the Code of Life," Eric Lander of MIT's Whitehead Institute explains the effort to decode the human genome -- from motivation to process to importance -- and explains what a genome map can do for science and what it can't -- yet.

The Genome Institute (TGI) is a world leader in the fast-paced, constantly changing field of genomics. A truly unique institution, we are pushing the limits of academic research by creating, testing, and implementing new approaches to the study of biology with the goal of understanding human health and disease, as well as evolution and the biology of other organisms.

Your genome, every human's genome, consists of a unique DNA sequence of A's, T's, C's and G's that tell your cells how to operate. Thanks to technological advances, scientists are now able to know the sequence of letters that makes up an individual genome relatively quickly and inexpensively. Mark J. Kiel takes an in-depth look at the science behind the sequence.

A decade ago, an international research team completed an ambitious effort to read the 3 billion letters of genetic information found in every human cell. The program, known as the Human Genome Project, provided the blueprint for human life, an achievement that has been compared to landing a man on the moon.

Genetic differences among ethnically diverse individuals are largely due to structural elements called copy number variants (CNVs), according to a study published today (August 6) in Science. Compared with other genomic features, such as single nucleotide variants (SNVs), CNVs have not previously been studied in as much detail because they are more difficult to sequence. Covering 125 distinct human populations around the world, geneticist Evan Eichler at the University of Washington in Seattle and an international team of colleagues studied the genomes of 236 people-analyzing both SNVs and CNVs. "The take-home message is that we continue to find a lot more genetic variation between humans than we appreciated previously," Eichler told The Scientist.

An international group of scientists meeting in Washington called on Thursday for what would, in effect, be a moratorium on making inheritable changes to the human genome. The group said it would be "irresponsible to proceed" until the risks could be better assessed and until there was "broad societal consensus about the appropriateness" of any proposed change. The group also held open the possibility for such work to proceed in the future by saying that as knowledge advances, the issue of making permanent changes to the human genome "should be revisited on a regular basis."

A dynamic 3D computer animated video takes you "inside" for a close-up look at how we're made. Watch as the mysteries of the Human Genome are literally "unraveled." 3D modeling and animation created by Bill Baker, Bakedmedia, Inc. and Mike Fisher for the National Human Genome Research Institute.

4:40 video overview of Mendel, Watson and Crick, Human Genome Project, and genomic research.

4:43 video

Quintana-Murci and his colleagues also took advantage of a previously published map of areas of the human genome where Neanderthal genes are present, showing that innate immune genes are generally more likely to have been borrowed from Neanderthals than genes coding other types of proteins. Specifically, they noted that 126 innate immune genes in present-day Europeans, Asians, or both groups were among the top 5 percent of genes in the genome of each population most likely to have originated in Neanderthals. The cluster of toll-like receptor genes, encoding TLR 1, TLR 6, and TLR 10, both showed signs of having been borrowed from Neanderthals and having picked up adaptive mutations at various points in history. Meanwhile, a group led by Janet Kelso of the Max Planck Institute for Evolutionary Anthropology in Leipzig, Germany, used both the same previously published Neanderthal introgression map that Quintana-Murci used and a second introgression map. The researchers searched for borrowed regions of the genome that were especially long and common in present-day humans, eventually zeroing in TLR6, TLR10, and TLR1. These receptors, which detect conserved microbial proteins such as flagellin, are all encoded along the same segment of DNA on chromosome four.

Hilary Brown is a PhD student, working in the infection genomics group at the Wellcome Trust Sanger Institute. In this film he describes how to work safely in the lab with bacteria from the human gut including culturing them on agar plates and extracting the DNA for genome sequencing. The infection genomics programme uses a variety of different research approaches to study the biology and evolution of disease-causing organisms such as viruses, bacteria and parasites and understand how they cause disease in humans and other animals.