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News Release

Diverse genome sequences provide a powerful tool for studying risk of heart disease

In a large-scale study of people from diverse ancestries, researchers narrowed down the number of genomic variants that are strongly associated with blood lipid levels and generated a polygenic risk score to predict elevated low-density lipoprotein cholesterol levels, a major risk factor for heart disease.

… ancestral groups substantially improves identification of genomic variants associated with blood lipid levels. … In a … ancestries, researchers narrowed down the number of genomic variants that are strongly associated with blood … Health. … Sarah E. Graham et al. The power of genetic diversity in genome-wide association studies of lipids . …

News Release

Genetic carriers for sickle cell disease have higher risks of blood clots across diverse ancestries

NIH researchers and collaborators have found that that sickle cell trait is prevalent among diverse human populations.

… trait. People with sickle cell trait have one copy of the genomic variant that causes sickle cell disease, a genetic …

15 Ways Genomics Influences Our World

Human Genomic Variation

Genomics is helping us understand what makes each of us different and what makes us the same.

… Project, researchers began developing tools to detect genomic differences between people. When scientists agreed to … new types of variants within human genomes. Human genomic variation is particularly important because a very … Rick's work has highlighted the beauty in human diversity (much of it caused by genomic variation); you can …

15 Ways Genomics Influences Our World

Cancer Genomics

Genomics is transforming how we study, diagnose and treat cancer.

… therapy. Such trials are aided by patients who share their genomic data with researchers or even openly with other … cancer than other people. As we learn more about the genomic changes predisposing a person to cancer, we have been … a number of companies who can help if you'd like to have genomic testing for hereditary causes of breast cancer. … You …

15 Ways Genomics Influences Our World

Genomics is altering a genome with unparalleled efficiency and precision.

… introduce mutations at the wrong sites rather than the genomic location being targeted. Many scientists are working … to couple the malaria-battling mutations with additional genomic changes designed to ensure a rapid spread throughout … controversial. For the first time , we can introduce genomic changes by genome editing and sweep them through …

15 Ways Genomics Influences Our World

Direct-to-Consumer Genomic Testing

Advances in genomics are helping you access information about your genome from your home.

… led to an explosion in at-home, or "direct to consumer" genomic testing. You can even seek genomic information without involving a healthcare provider … on the radio. The global "direct-to-consumer" (or DTC) genomic testing market was valued at $117 million in 2017, …

15 Ways Genomics Influences Our World

Genomes at Work

We are learning how our genomes serve as blueprints for life.

… but would not give information about how it's used. As genomic technology improved, more complicated maps could be … of Healthcare Provider Educational Resources Mapped to Genomic Competencies Health Education England - Genomics …

Health

Genomics and Medicine

Genomic medicine involves using genomic information as part of clinical care and the health outcomes and policy implications of that clinical use.

… Genomic medicine is an emerging medical discipline that involves using genomic information about an individual as part of their … Policy Issues in Genomics Genome Statute and Legislation Database … Background … How do we get there? … Genomic …

News Release

Scientists release a new human “pangenome” reference

Researchers have released a new high-quality collection of reference human genome sequences that captures substantially more diversity from different human populations than what was previously available.

… of genome sequences captures significantly more human diversity. … The new pangenome reference is a collection … genome sequence for every person can lead to inequities in genomic analyses. For example, predicting a genetic disease … different from the reference genome. To understand these genomic differences, scientists create reference human genome …

Fact Sheets

A Brief Guide to Genomics

Genomics is the study of all of a person's genes (the genome), including interactions of those genes with each other and with the person's environment.

… human DNA generated by the Human Genome Project and other genomic research, scientists and clinicians have more … that treatments will be tailored to a patient's particular genomic makeup. Thus, the role of genetics in health care is … to change profoundly and the first examples of the era of genomic medicine are upon us. It is important to realize, …