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Talking Glossary
An inversion in a chromosome occurs when a segment breaks off and reattaches within the same chromosome, but in reverse orientation.
Talking Glossary
LOH (short for “loss of heterozygosity”) refers to a type of mutation that results in the loss of one copy of a segment of DNA (typically containing a gene or group of genes).
Talking Glossary
A megabase (abbreviated Mb) is a unit of measurement used to help designate the length of DNA. One megabase is equal to 1 million bases.
Talking Glossary
When analysis of a patient’s genome identifies a variant, but it is unclear whether that variant is actually connected to a health condition, the finding is called a variant of uncertain significance (abbreviated VUS).
Talking Glossary
cDNA (short for copy DNA; also called complementary DNA) is synthetic DNA that has been transcribed from a specific mRNA through a reaction using the enzyme reverse transcriptase
Talking Glossary
A gigabase (abbreviated Gb) is a unit of measurement used to help designate the length of DNA.
Talking Glossary
GMO (short for “genetically modified organism”) is a plant, animal or microbe in which one or more changes have been made to the genome, typically using high-tech genetic engineering, in an attempt to alter the characteristics of an organism.
Talking Glossary
A kilobase (abbreviated kb) is a unit of measurement used to help designate the length of DNA or RNA. One kilobase is equal to 1,000 bases.
Talking Glossary
A polygenic risk score (abbreviated PRS) uses genomic information alone to assess a person’s chances of having or developing a particular medical condition.
The Genomics Landscape
In the July 2023 edition of The Genomics Landscape, NHGRI Director Eric Green describes the evolution of the NHGRI Intramural Research program over the last three decades talks about its future in conducting truly exceptional basic, translational, and clinical genomics research.
… the changing landscape of genomics research. For the past three decades, the institute’s IRP has been a leader in … to benefit human health. The plan supports the community’s three key priorities : to improve interoperability and … Intramural Research program over the last three decades talks about its future in conducting truly exceptional basic, …