A systematic review of 52 scientific papers submitted to a world-leading clinical genetics journal from multiple scientists over a two-year period reveals that not a single one named critical gene mutations (correctly termed as variants) with precision. The findings partly explain why about 70% of rare diseases go undiagnosed, even in the U.K., which arguably has the world’s most advanced genomic medicine service. Led by Dr. Peter Freeman, a geneticist from The University of Manchester, the findings are published in Clinical Chemistry.
This article was originally published on MedicalXpress.com
