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News Release
Six new grants will support researchers for new computational approaches to search millions of genomic variants for disease susceptibility.
… approaches for searching among millions of genomic variants to find those that make a difference in disease … proteins are made. "We know a great deal about the protein-coding genes and what they do," said Mike Pazin, Ph.D., … Ph.D. The researchers plan to interpret the importance of non-coding variants in human disease by studying their …
Educational Resources
An allele is one of two or more versions of a gene.
… Autosomal, Mutation, Inherit, Heterozygous, DNA Sequence, Non-coding DNA … An allele is one of two or more versions of DNA …
News Release
NHGRI is awarding Genomic Innovator Awards to nine institutions to support the research of 12 early career scientists in the field of genomics. The awards will total up to $27 million over five years.
… Carolina Analyze the molecular composition associated with non-coding DNA and RNA sequences.  Jesse Engreitz, Ph.D. … models, machine learning, personalized medicine, CRISPR, non-coding DNA and RNA sequences, gene regulation, …
The Genomics Landscape
In the March 2019 edition of The Genomics Landscape, NHGRI Director Eric Green details ClinGen, the first FDA-recognized Public Human Genetic Variant Database.
… challenge has been establishing which genes and gene variants are relevant in disease. ClinGen was launched in … resource that defines the clinical relevance of genes and variants for use in medicine and research and to develop an … (ACMG). ClinGen has collected information on genetic variants across the genome, developed consensus methods to …
Research Funding
The centers define the state-of-the-art study designs and methods to find variants and genes underlying Mendelian disorders.
… the state-of-the-art study designs and methods to find the variants and genes underlying Mendelian disorders. … The discovery of the genes and genetic variants that underlie human Mendelian disorders is of … biomedical relevance. The knowledge of those genes and variants will facilitate rapid and accurate diagnosis of …
News Release
NIH will renew three awards totaling $73.2 million over five years to continue building the Clinical Genome (ClinGen) resource, an effort to collect and archive information about clinically relevant genes and genomic variants for use in precision medicine.
… information about clinically relevant genes and genomic variants for use in precision medicine. The National Human … availability of information about which genes and genomic variants are relevant to human disease. NHGRI established the … identify which genes are associated with disease and which variants in those genes are disease-causing. Then, they work …
Research Funding
A collaborative large-scale genome sequencing effort to identify rare risk and protective variants contributing to multiple common disease phenotypes.
… to comprehensively identify rare risk and protective variants contributing to multiple common disease phenotypes. … sequencing effort to identify rare risk and protective variants contributing to multiple common disease phenotypes. ​ … Genome Sequence, Gene Variants, Genetic Risk, Common Disease, Rare Disease, Dna …
News Release
Scientists studying the genomes of nearly 5,000 people have pinpointed a genetic variant tied to an increased risk for stroke and cardiovascular disease.
… researchers scan the genome to identify specific genomic variants associated with a disease. In this case, the scientists were trying to identify variants associated with a trait - the ability to metabolize … methionine into homocysteine. Investigators identified variants in five genes in the FOCM pathway that were …
News Release
Researchers have conducted the first study to look at the genomic underpinnings of obesity in continental Africans and African Americans.
… to search for regions of the genome that contain genomic variants associated with the condition. Most previous studies … such as zebrafish to identify the role of genomic variants in SEMA4D in obesity and obesity-related traits. …
Educational Resources
Polymorphism involves one of two or more variants of a particular DNA sequence.
… Polymorphism … Polymorphism involves one of two or more variants of a particular DNA sequence. … Base Pair, … of DNA. … Polymorphism involves one of two or more variants of a particular DNA sequence. … Educational Resources …