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Talking Glossary
Alternative splicing is a cellular process in which exons from the same gene are joined in different combinations, leading to different, but related, mRNA transcripts.
Genetic Disorders
Hereditary hemochromatosis is a genetic disease that alters the body's ability to regulate iron absorption.
Fact Sheet
Several regulations and policies stipulate the information that must be given to research participants prior to their enrolling in a study.
… biological products and devices. When the Common Rule regulation was revised in 2018 , it introduced a number of …
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.
… is RNA made? RNA molecules are made by a process called transcription . In RNA, there are four different nucleotides, … nucleotide that makes up the DNA strand.  During transcription, the DNA serves as a template, and the RNA … RNAs. While many lncRNAs are thought to have roles in gene regulation, their exact functions remain unknown, and this is …
Staff
Dr. Laura Elnitski is a senior investigator in the Translational and Functional Genomics Branch at the National Human Genome Research Institute.
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… promoters are now widely accepted as a mechanism of gene regulation. However in 2007, the basic set of genes with this … in PNAS ). One of the most intriguing components of gene regulation is the epigenetic code, which influences gene … Jin, V.X., Farnham, P.J., Jones, S.J. Locating mammalian transcription factor binding sites: A survey of computational …
Policy Issues
Federally-funded research with human participants must comply with regulations that protect the rights and welfare of the participants.
… ( Code of Federal Regulations, Title 45, Part 46 ). This regulation establishes rights and protections for …
Educational Resources
A tumor suppressor gene directs the production of a protein that is part of the system that regulates cell division.
Policy Issues
NHGRI has created the IDE Greenhouse as an educational resource to help increase understanding of the regulation in the genomics context.
… (FDA) Investigational Device Exemption (IDE) regulation ( 21 CFR Part 812 ) oversees clinical research … technologies continue to enter the clinical realm, IDE regulation has become increasingly relevant. Sometimes, the applicability of IDE regulation to genomic tests can be difficult to interpret …
Policy Issues
This glossary contains definitions for commonly used terms (such as "bill", "statute", "regulation" and more) found in the Genome Statue and Legislative Database.
… for commonly used terms (such as "bill", "statute", "regulation" and more) found in the Genome Statue and … in chronological order). The text of the original law or regulation is collated with any subsequent amendments … to or deletions from the language of the original law or regulation), to provide the most up-to-date text of the law …
Research Funding
The developmental Genotype-Tissue Expression initiative's goal is to catalog and analyze transcriptional profiles from a wide variety of tissues from the pediatric period, including neonates through adolescents, in a post-mortem setting.
… analysis resource as well as a tissue bank to study the regulation of gene expression in multiple relatively healthy …