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Talking Glossary
A cancer-susceptibility gene is a gene that, when changed (or mutated), gives an individual an increased risk for developing cancer
Talking Glossary
Autosomal recessive is a pattern of inheritance characteristic of some genetic disorders.
Talking Glossary
Chromosomes are threadlike structures made of protein and a single molecule of DNA that serve to carry the genomic information from cell to cell.
Talking Glossary
Genetic architecture is the combined effect of all genetic influences on a trait.
Talking Glossary
Structural variation refers to differences between genomes involving larger segments of DNA.
Talking Glossary
RNA-seq, short for RNA sequencing, is a method for sequencing an entire set of RNA molecules.
Talking Glossary
Phenotypic variance is the observed variability of a particular trait. For many measurable traits (such as height, skin color, and blood pressure) phenotypic variation can be thought of as a distribution.
Talking Glossary
A pathogenic variant is a genomic variant that may increase a person’s risk of developing a condition, disorder or disease.
Talking Glossary
A pangenome is a collection of genome sequences from many individuals of the same species.
Talking Glossary
While some sequencing technologies produce reads that are only a few hundred nucleotides long, some methods can generate reads that are thousands to hundreds of thousands of nucleotides long, known as “long-read DNA sequencing.”