HIGHLIGHTS
- who: Samiha S. Shaikh from the Department of Medical Genetics, Cambridge Institute for Medical Research, Hills Road, Cambridge , XY, United Kingdom have published the research work: Before progressing from ⠜exomes⠀ to ⠜genomes⠀⠦ don⠒t forget splicing variants, in the Journal: (JOURNAL) of 16/Oct/2017
SUMMARY
The recent experience of investigating a cohort of 38 individuals with a severe, genetically heterogeneous Mendelian phenotype shows that this continues to be a problem; three variants that affected splicing were initially "missed" because they were not detected by current splice site detection algorithms. The concern is . . .
If you want to have access to all the content you need to log in!
Thanks :)
If you don't have an account, you can create one here.