Why it matters
Phenotypes can include appearance, laboratory measurements, or other traits. Linking these observations to genomic records can make a research dataset more informative while also revealing more about the people represented in it.
A practical example
In a hypothetical study, an eye-color observation and a genotype file are separate records joined by a participant code. The observation is a phenotype; the DNA markers are part of the genotype.
An important distinction
An observed characteristic differs from a predicted one. A model estimating a trait from DNA should communicate uncertainty, and its output should not be described as a direct observation of the person.
Sources and further reading
- BACKGROUND SOURCE NHGRI Talking Glossary of Genomic and Genetic Terms
The example above is hypothetical. Related cases provide context; they do not imply that every case involved this mechanism.