National Human Genome Research Institute (NHGRI)

Uh oh. Our cat is furious and definitely plans on destroying the couch today. Please help us calm her down by including diverse populations in your genomics research. It not only provides better healthcare for underrepresented populations, but it also provides genomics insights that can benefit everyone! https://lnkd.in/e7bHpvy3

Medical professionals! Are you interested in leading genomic medicine research and implementation programs at NIH? Apply to the fellowship program from NIH and ACMG - American College of Medical Genetics and Genomics in Genomic Medicine Program Management! Learn more about this exciting opportunity: https://lnkd.in/ef3ht3xu

Whether you want to bring genomics into your classroom or are just curious to learn about genomics, NHGRI can help. I may be biased, but the fact sheets available on genome.gov contain lots of information about fascinating genomics topics! Learn about DNA sequencing, chromosomes, new genomic technologies, and more! https://lnkd.in/eEhjs-fq  

NHGRI is hiring a new director of the Division of Genome Sciences! We’re looking for an enthusiastic candidate to lead NHGRI’s efforts to fund extramural research and trainings to advance our understanding of genomics. Learn more about this exciting opportunity and apply by September 11! https://lnkd.in/edUDPTJc

Much of medical practice today is based on treating the “average” patient. But none of us is average — each of us is unique! Our genomic differences are a large part of what makes us unique. For example, many people have an illness because of genomic variants in one or more of their genes, often in combination with environmental and social factors. Researchers study these variants to understand the role that genomics plays in human disease.    Learn more about this in our polygenic risk score fact sheet! https://lnkd.in/ebe4_dsi  

New this year is the first AnVIL Community Conference (ACC) on November 12-13! We have 3 guest amazing speakers (Benedict Paten | Tychele Turner | ANSHUL KUNDAJE) plus hands on workshops to learn about cloud computing and AnVIL. Open to all and is immediately before the Biological Data Science Conference. Register today! http://bit.ly/anvil2024 National Human Genome Research Institute (NHGRI) | AnVIL Project

Why did we need to update the human genome reference sequence? When it was created during the Human Genome Project, around 70% of the genome sequence came from only one person with blended ancestry, including African, European, admixed American, East Asian and South Asian ancestry. The remaining 30% of the human genome sequence came from 19 individuals of mostly European ancestry. Because the data mostly came from one person, the genomic diversity was very limited. To be representative, a reference genome sequence needs to encompass many more sequences from people all over the world. This way, genomic findings can help all populations! That’s why researchers from the Human Pangenome Reference Consortium (HPRC) have completed a collection of new human reference genome sequences that reflect much more global diversity! This new “pangenome” reference includes genome sequences from 47 people, which is more than double the amount of genomic diversity represented in the previous human reference genome sequence. HGRC researchers are now aiming to have 350 genome sequences next! A reference genome that represents diverse human populations will help researchers gain more insights into the links between genes and human health and disease. Learn more about the pangenome! https://lnkd.in/eBNF7SXJ

To make revolutionary genomics research happen, researchers need to use new methods like machine learning to analyze these large amounts of data. That's why NHGRI created the Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)! Scientists developed AnVIL as a unified computing environment for genomics data storage, management and analysis. AnVIL provides tools, workflows, training and educational opportunities to facilitate diverse and large-scale genomics analyses in a cloud environment. AnVIL also makes data accessible in the cloud for users everywhere. We are PUMPED that the first-ever AnVIL Community Conference will be held on November 12-13! Join virtually or in-person to participate in workshops, collaborate with other innovators and hear from experts who will discuss AnVIL's latest advances. Learn more and register here! https://lnkd.in/e_-J3U8d

NHGRI’s Genomic Data Science Analysis, Visualization, and Informatics Lab-Space (AnVIL) is revolutionizing genomic data science by providing a unified environment for data management, compute, and collaboration. We are delighted that the first-ever AnVIL Community Conference will be held on November 12-13! Join either virtually or in-person to hear from experts who will discuss the latest advances with the platform, participate in workshops with hands-on instruction, and collaborate with other innovators. I encourage you to learn more and register here: https://lnkd.in/ecPHKzek 

Happy #NationalDogDay, fren! A dog’s genetic blueprint is so similar to that of humans that researchers can actually compare them and gain new insights about dog and human health.   NHGRI’s Dog Genome Project is a lab run by Dr. Elaine Ostrander. Her team of researchers studies genomic variation in dog breeds, which helps them find genes associated with certain traits and cancers. Recently, they studied dog populations living in and around the Chernobyl Nuclear Power Plant to see how long-term doses of radiation can affect population structure. This team of researchers have analyzed the genome of the New Guinea singing dog, a breed that was thought to be extinct for 50 years!   Learn more about the Dog Genome Project at the link in our stories! https://lnkd.in/eFqV5ZTb