Group items tagged

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.

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.

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.

Genomics England, with the consent of participants and the support of the public, is creating a lasting legacy for patients, the NHS and the UK economy through the sequencing of 100,000 genomes: the 100,000 Genomes Project.

This directed case study was developed in order to present genomic data to students, allow them to interpret the impact of genetic variations on phenotype, and to explore precision medicine. Students are introduced to "Josie," a college sophomore who decides to have her genome sequenced after learning about genome-wide association studies (GWAS) in class. As students work  through the case, they learn about the different technologies that can be used in GWAS studies and interpret Josie's results for a subset of genetic markers that affect a range of traits from pharmacogenetics to disease risk alleles and non-pathogenic traits. Students are confronted with ethical issues such as duty to inform, actionable results, and variants of unknown significance (VUS). Students are also asked to reflect on their feelings about getting genomic testing for themselves. An optional activity for advanced students (included in the teaching notes) involves using the Gene database at NCBI to explore variants of the CYP2C9 gene. The case study is appropriate for use in undergraduate genetics or molecular biology classrooms.

In this lesson, students explore some of the risks and benefits of gene-based medicine. They look at concerns related to genetic testing (which looks for particular genetic variations) and personal genome sequencing (which sequences the entire genome of an individual). Through videos and discussions, students learn about existing technologies for genetic testing and therapies. They also explore matters such as the emotional consequences of genetic testing, discrimination, and privacy issues. In small groups, students discuss scenarios and then share and analyze related opinions and concerns.

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.

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.

4:43 video

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.

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.

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.

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.

This video excerpt from NOVA uncovers the genetic mystery that nearly killed Alexis, now 14, and introduces the debate surrounding genetic testing at birth. After diagnosing Alexis and her twin brother Noah with cerebral palsy at a young age, doctors later discovered that the twins shared a rare genetic mutation that led to a condition that mimics cerebral palsy. The twins improved after receiving treatment, but then Alexis took a turn for the worse. Thanks to whole genome sequencing, doctors discovered a second problem linked to the mutation and gave her a different treatment that saved her life.

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.

This two-hour special, hosted by ABC "Nightline" correspondent Robert Krulwich, chronicles the fiercely competitive race to capture one of the biggest scientific prizes ever: the complete letter-by-letter sequence of genetic information that defines human life-the human genome. NOVA tells the story of the genome triumph and its profound implications for medicine and human health.

"Scientists have sequenced the complete genome of the naked mole rat, a pivotal step to understanding the animal's extraordinarily long life and good health."