Year: 2024
Type: article
Abstract: On average, approximately 30% of patients suffering from rare monogenic diseases receive a molecular diagnosis. Many patients remain undiagnosed due to the lack of a clear disease-causing genetic variant or mutation among the millions of variants in the average human genome. Computational approaches that efficiently and accurately identify functionally relevant variants for review are essential to diagnostic teams.
Source: Genetics in Medicine Open
Authors: Isabelle Cooperstein, Alistair Ward, Gabor Marth
Institution: University of Utah
Language: English
Topic: Genomics and Rare Diseases
Subfield: Genetics
Domain: Life Sciences
Open Access status: gold
Estimated APC paid: $3,200
OpenAlex ID: W4392588982