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Talking Glossary
Autosomal recessive is a pattern of inheritance characteristic of some genetic disorders.
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.
Talking Glossary
Aneuploidy is an abnormality in the number of chromosomes in a cell due to loss or duplication. In humans, aneuploidy would be any number of chromosomes other than the usual 46.
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
A secondary genomic finding refers to a genomic variant, found through the analysis of a person’s genome, that is of potential medical value yet is unrelated to the initial reason for examining the person’s genome.
Talking Glossary
Scientific racism is a historical pattern of ideologies that generate pseudo-scientific racist beliefs.
Talking Glossary
Precision medicine (generally considered analogous to personalized medicine or individualized medicine) is an innovative approach that uses information about an individual’s genomic, environmental and lifestyle information to guide decisions related to their medical management.
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.
Talking Glossary
Next-generation DNA sequencing (abbreviated NGS) refers to the use of technologies for sequencing DNA that became available shortly after the completion of the Human Genome Project (which relied on the first-generation method of Sanger sequencing).
Talking Glossary
Nanopore DNA sequencing is a laboratory technique for determining the exact sequence of nucleotides, or bases, in a DNA molecule.