Search Results

Facet (Page)

Content Formats

41 - 50 of 66

Fact Sheets

A transcriptome is a collection of all the gene readouts present in a cell.

… most genes is not yet known. A search of a transcriptome database can give researchers a list of all the tissues in … its possible function. For example, if the transcriptome database shows that an unknown gene's expression levels are … an NIH-supported initiative that generated a free, public database of gene transcripts for many mouse tissues. These …

Policies and Guidance

Metadata and Phenotypic Data Sharing Expectations

Frequently Asked Questions regarding the NHGRI's Metadata and Phenotypic Data Sharing Expectations.

… share both metadata and phenotypic data sharing along with genomic datasets that are required to be shared, in … GDS Policy states that NIH-funded researchers generating genomic data are expected to deposit “relevant associated … be made available through an open access section of a database such as AnVIL, dbGaP, other public websites, and …

For Patients and Families

An Undiagnosed Condition in an Adult FAQ

An adult has an "undiagnosed condition" when a physician is unable to find a diagnosis for certain characteristics or symptoms.

… Institutes of Health has developed ClinicalTrials.gov , a database accessible to the public through the Web. This database provides patients, family members and members of the …

For Patients and Families

Undiagnosed Condition in a Child FAQ

A child has an "undiagnosed condition" when a physician is unable to find a diagnosis for certain characteristics or symptoms.

… Institutes of Health has developed ClinicalTrials.gov , a database accessible to the public through the Web. This database provides patients, family members and members of the …

News and Events

Press Resources

A collection of institute resources, background information, and points of contact for members of the press.

Fact Sheets

Genetic Mapping Fact Sheet

Genetic mapping offers evidence that a disease transmitted from parent to child is linked to one or more genes and clues about where a gene lies on a chromosome.

Fact Sheets

Transcriptoma

Un transcriptoma es una colección de todas las lecturas de genes presentes en una célula.

… de referencia del ratón ( Mouse Reference Transcriptome Database ). Existen otros recursos de transcriptomas, que …

Fact Sheets

Estudios de asociación en todo el genoma

Un estudio de asociación en todo el genoma es un enfoque que incluye el escaneo o búsqueda rápida de marcadores en todos los conjuntos completos de ADN.

… del NCBI denominado Base de datos de genotipo y fenotipo ( Database of Genotype and Phenotype , dbGaP). ¿Qué está …

Fact Sheet

The Informed Consent Process

Informed consent is more than a form; it’s a process. What does it involve?

… requires careful explanation about how the participant’s genomic information will be used during and after the study, … informed consent for large genomics projects? Certain genomic concepts can be challenging to convey. With advances … technology, increased data sharing and concerns around genomic privacy, the genomics field recognizes the need for …

Fact Sheet

Ribonucleic Acid (RNA)

Ribonucleic acid (RNA) is an essential molecule that performs many roles in the cell, from carrying the instructions to make proteins to regulating genes.

… RNA is reverse transcribed into DNA and inserted in a new genomic location. Retrotransposons are very common in the … cells try to stop retrotransposons from “jumping” to other genomic locations because they can be harmful if they land in …