HIGHLIGHTS
- who: Copy-number variation and colleagues from the Centre for Genomic Medicine, University NHS have published the paper: Assessment of the incorporation of CNV surveillance into gene panel next-generation sequencing testing for inherited retinal diseases, in the Journal: (JOURNAL)
- what: This study assessed the applicability of introducing CNV surveillance into first-tier diagnostic gene panel NGS services for IRD. The authors show that at least 7% of individuals referred for diagnostic testing for IRD have a CNV within genes relevant to their clinical diagnosis and determined a positive predictive value of 79% for the . . .
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