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- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
- Ethical, Legal and Social Implications (ELSI) Research Program6
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genetic Architecture of Complex Traits1
- Genome Technology Program5
- Enhancing Opportunities in Computational Genomics and Data Science1
- Human Genome Reference Program (HGRP)2
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Advancing Genomic Medicine Research (AGMR)1
- Encyclopedia of DNA Elements (ENCODE) Project1
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- Clinical Genome (ClinGen) Resource1
- Genomic Innovator Awards2
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)2
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
For Patients and Families
FAQs about genetic disorders, the impact of genomics on your health, and the emerging science of pharmacogenomics.
… Experts at the National Human Genome Research Institute (NHGRI) have assembled answers to … asked questions about genetic disorders, the impact of genomics on your health, and the emerging science of pharmacogenomics. … Health FAQs … FAQs about genetic …
Infographic
Among the 24 chromosomes that make up the human genome, the Y chromosome is unique for its highly repetitive structure. Scientists are studying the Y and its unusual features to better understand human health and disease.
… Among the 24 chromosomes that make up the human genome, the Y chromosome is unique for its highly repetitive …   11 Neat Facts About the Y chromosome In the nucleus of each cell, DNA packaged in thread-like structures called … dif cult for researchers to study. Specialized DNA sequencing and analysis techniques are needed to determine …
Fact Sheet
Ribonucleic acid (RNA) is an essential molecule that performs many roles in the cell, from carrying the instructions to make proteins to regulating genes.
… different biological roles. Both RNA and DNA are made up of chemical units called nucleotides that are joined together … different RNA molecules from the same gene in the genome. When mRNAs are alternatively spliced, mRNAs from the … of different RNAs. Transcriptomes are studied using RNA sequencing . Scientists can sequence the RNA from one cell, …
Fact Sheets
Newborn screening tests use a dried blood sample collected during the first week after birth to measure the presence of disease biomarkers.
… during the first week after birth to measure the presence of disease biomarkers (a measurable substance or … used by state newborn screening programs are fast, low cost and accurate in identifying disease before symptoms appear. … The cost of genome sequencing has now decreased to a price range similar …
Fact Sheets
Un panorama general del instituto, las implicaciones sociales de la investigación genética, y conceptos genéticos complejos al público no cientÃfico.
… de Investigación del Genoma Humano ( National Human Genome Research Institute , NHGRI) ha producido una serie de …
Fact Sheet
El consentimiento informado es más que un formulario; es un proceso. ¿Qué implica?
For Patients and Families
Neglected diseases are conditions that inflict severe health burdens on the world's poorest people.
… severe health burdens on the world's poorest people. Many of these conditions are infectious diseases that are most … private pharmaceutical companies cannot recover the cost of developing and producing treatments for these … many take to ward off malaria infections. Still, even at a cost of less than 50 cents a day, such drugs remain too …
For Patients and Families
​Genetic tests may be used to identify increased risks of health problems, to choose treatments, or to assess responses to treatments.
… … Genetic tests may be used to identify increased risks of health problems, to choose treatments, or to assess … find out their results. Financial : Genetic testing can cost anywhere from less than $100 to more than $2,000. Health … about genetic discrimination and GINA, see http://www.genome.gov/10002328/genetic-discrimination-fact-sheet/ ). …
Fact Sheets
Un transcriptoma es una colección de todas las lecturas de genes presentes en una célula​​. ​
… de Investigación del Genoma Humano ( National Human Genome Research Institute , NHGRI), que es parte de los … Institutos Nacionales de la Salud ( National Institutes of Health , NIH), ha participado en dos proyectos que crearon … y la Enciclopedia de los Elementos del ADN ( Encyclopedia of DNA Elements , ENCODE). GTEx está creando un catálogo de …
Fact Sheet
Informed consent is more than a form; it’s a process. What does it involve?
… and comprehension can be achieved in a variety of ways.  Genomics research requires careful explanation … the study, as well as any implications that arise from the sequencing of their DNA. … How do researchers make the … concepts can be challenging to convey. With advances in genome sequencing technology, increased data sharing and …