Search Results
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… architecture of health and disease at scale: - Discovering variants conferring risk for common disease; - Discovering … the molecular, cellular, organ and organismal functions of coding and non -coding genome sequences B. Develop tools to manipulate …
News Release
NHGRI-funded CSER investigators and colleagues point to need for greater evidence that DNA sequencing helps patients.
… in medicine. CSER investigators have discovered genomic variants - differences in the DNA code - that could … the importance of improving standards for determining what variants do and their roles in a patient's condition. Meeting … able to sequence genomes and entire exomes (the protein-coding portion of the genome), Dr. Rehm suggested that there …
Fact Sheet
Diversity among genomics research participants is essential for improving the health of everyone.
… T. The dissimilarities among human genomes, referred to as variants, come from differences in our DNA sequences. The … could reside at any place among those letters. These variants occur at different frequencies across different … migration patterns. Also, in specific populations, certain variants became widespread as they provided an advantage that …
News Release
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.
… paths at the top of the image represent single nucleotide variants (SNVs), which are single letter differences. The … reference, we can more accurately identify larger genomic variants called structural variants,” said Mobin Asri, a Ph.D. student at the University …
Event
NHGRI is hosting a workshop - Identifying Research Priorities to Accelerate genetic Diagnosis - on April 16-17, 2024.
… 2:15 PM - Break 2:35 PM – Session 4: Effectively Linking Variants to Function Moderator: Erin Ramos, NHGRI 2:35 PM – … (WGS) are commonly used methods for determining causal variants underlying Mendelian disease. Although WES and WGS …
Educational Resources
A haplotype is a set of DNA variations, or polymorphisms, that tend to be inherited together.
… Project … A haplotype is a physical grouping of genomic variants (or polymorphisms) that tend to be inherited … haplotype typically reflects a unique combination of variants that reside near each other on a chromosome. … A …
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… ) Project . ENCODE aims to catalogue the functional non -coding elements of the genome and is currently in its fourth … among these projects to ensure interoperability and non -duplicative efforts. NHGRI is active in trans -institute …
Secondary Genomics Findings Service
Secondary findings explained, eligible protocols, and services offered.
… Secondary findings are pathogenic or likely-pathogenic variants in medically actionable genes that are directly … the American College of Medical Genetics recommends that variants in 73 genes be returned to people undergoing …
Educational Resources
A carrier is an individual who carries and is capable of passing on a genetic mutation associated with a disease and may or may not display disease symptoms.
Profile
Carlos Ferreira, M.D., staff clinician in NHGRI's Metabolic Medicine Branch, knows the catalogue of rare skeletal disorders well. With hundreds of known rare bone disorders and more to be discovered, Dr. Ferreira breaks down the challenges of skeletal genomics.
… being diagnosed than ever before and the causative genomic variants are being identified. Carlos Ferreira, M.D. , a …