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Autism is rooted in genetics, including the mutation of certain genes that result in a failure of neurons in the brain to properly connect. Based on earlier genetic research funded by Autism Speaks, such as the Autism Genome Project (AGP), scientists have discovered some of these genes. But much more gene discovery needs to take place. The Autism Genome 10K Project will mark a substantial leap forward on this journey. The Autism Genome 10K Project builds on the successes of Autism Speaks' Autism Genetic Resource Exchange program (AGRE), a high-quality collection of more than 12,000 DNA samples from families affected by autism. The AGRE program has facilitated many high-impact scientific discoveries in recent years, including the risk genes discovered by the AGP and other researchers. With BGI sequencing the full complement of 10,000 samples collected by AGRE and collaborators in China, Autism Genome 10K leverages BGI's cutting-edge expertise and globally unrivaled capacity for high-quality genome sequencing.

Why does a snake have 25 or more rows of ribs, whereas a mouse has only 13? The answer, according to a new study, may lie in "junk DNA," large chunks of an animal's genome that were once thought to be useless. The findings could help explain how dramatic changes in body shape have occurred over evolutionary history. Scientists began discovering junk DNA sequences in the 1960s. These stretches of the genome-also known as noncoding DNA-contain the same genetic alphabet found in genes, but they don't code for the proteins that make us who we are. As a result, many researchers long believed this mysterious genetic material was simply DNA debris accumulated over the course of evolution. But over the past couple decades, geneticists have discovered that this so-called junk is anything but. It has important functions, such as switching genes on and off and setting the timing for changes in gene activity. 

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.

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.

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.

DNA is an interactive Web site where students can learn about DNA and its structure and function, the scientific history of its discovery and its development into a powerful tool in biology, technology, and medicine, and about the Human Genome Project, genetic engineering, and some of the implications and ethical issues surrounding genetic technology.

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.

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.

This lesson, using segments from the PBS series Faces of America, explores the various types of genetic information contained in the human genome. The Introductory Activity examines the structure and composition of chromosomes and DNA, and can be used as a review or introduction to the topic. Following that, students will participate in a hands-on activity reviewing basic Mendelian genetics and the difference between genotype and phenotype. Students will also learn about different ways of tracing ancestry through DNA, and apply that to patterns of human migration and genetic population sets known as haplogroups. In the Culminating Activity, students will develop methods for determining the genetic heritage of their class, school, or community.

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.

or more than a decade scientists have been saying that a genomic revolution will transform medicine, making it possible to scan all of a person's DNA to predict risk and customize medical care. Well, we've got the machines. Where's the revolution? Getting closer, say researchers at Stanford University, who tested the technology on 12 people. But not quite ready for every doctor's office.

Panobinostat is a new type of drug that works by blocking an enzyme responsible for modifying DNA at the epigenetic level. Epigenetics refers to chemical marks on DNA itself or on the protein "spools" called histones that package DNA. These marks influence the activity of genes without changing the underlying sequence, essentially acting as volume knobs for genes. Earlier genomic studies showed that about 80 percent of DIPG tumors carry a mutation that alters a histone protein, resulting in changes to the way DNA is packaged and tagged with those chemical marks. This faulty epigenetic regulation results in activation of growth-promoting genes that should have been turned off, and shutdown of others that should have acted as brakes to cell multiplication. Cancer is the result. Panobinostat appears to work by restoring proper functioning of the cells' chemical tagging system.

Our genomes are riddled with the detritus of ancient viruses. They infected our hominid ancestors tens of millions of years ago, inserting their genes into the DNA of their hosts. Today, we carry about 100,000 genetic remnants of this invasion. So-called endogenous retroviruses make up 8 percent of the human genome.

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.

Over the last decade, as DNA-sequencing technology has grown ever faster and cheaper, our understanding of the human genome has increased accordingly. Yet scientists have until recently remained largely ham-fisted when they've tried to directly modify genes in a living cell. Take sickle-cell anemia, for example. A debilitating and often deadly disease, it is caused by a mutation in just one of a patient's three billion DNA base pairs. Even though this genetic error is simple and well studied, researchers are helpless to correct it and halt its devastating effects.

Over recent decades, scientists have made various discoveries about DNA methylation and how vital it is to a number of cellular processes such as embryonic development, X-chromosome inactivation, genomic imprinting, gene suppression, carcinogenesis and chromosome stability. Researchers have linked abnormal DNA methylation to several adverse outcomes, including human diseases.

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.

Genome Sciences Education Outreach at the University of Washington in Seattle develops innovative programs that bring leading-edge science to teachers and students in K-12 schools.

The Department of Genome Sciences at the University of Washington in Seattle develops innovative programs that bring leading-edge science to teachers and students in K-12 schools.

Lying dormant in our genomes are millions of jumping genes. Originally discovered by Barbara McClintock, transposons are DNA sequences that can move from one location to another in our DNA. Transposons cause mutations when they jump to new locations, so keeping them from jumping is important.