Study reveals worrying extent of imprecise gene and gene mutation naming
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 around 70% of rare diseases go undiagnosed, even in the UK, which arguably has the worlds most advanced genomic medicine service.Led by Dr Peter Freeman, a geneticist from The…

