What does it look like to be the carrier of a genetic disease? Carrier status may be determined through the visual analysis of both genotypic and phenotypic evidence. Over the past 70 years, clinical geneticists have depended upon multiple strategies for identifying disease carriers within a family. This has included pedigree analysis, which was based upon clinical observations of individual family members and, in recent decades, cytogenetic and molecular methods. Newer techniques have offered novel opportunities to actually see the suspected etiological markers of certain genetic diseases, such as Fragile X syndrome. The visualization of these markers has both clarified and confused previously observed inheritance patterns, in some cases leading to the development of newly distinct diagnostic categories. As a result, what it means to be affected by, or the carrier of, a genetic disease has continuously evolved.
This research output has an Altmetric Attention Score of 3. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 29 March 2025.
All research outputs
#8,534,528
of 25,373,627 outputs
Outputs from Endeavour
#177
of 469 outputs
Outputs of similar age
#74,101
of 251,075 outputs
Outputs of similar age from Endeavour
#4
of 8 outputs
Altmetric has tracked 25,373,627 research outputs across all sources so far. This one is in the 43rd percentile – i.e., 43% of other outputs scored the same or lower than it.
So far Altmetric has tracked 469 research outputs from this source. They typically receive more attention than average, with a mean Attention Score of 9.9. This one is in the 31st percentile – i.e., 31% of its peers scored the same or lower than it.
Older research outputs will score higher simply because they've had more time to accumulate mentions. To account for age we can compare this Altmetric Attention Score to the 251,075 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 40th percentile – i.e., 40% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 8 others from the same source and published within six weeks on either side of this one. This one has scored higher than 4 of them.
