I N Okeafor, C U Okeafor
PHQ-9 DIAGNOSTIC ACCURACY AND OPTIMAL CUT-OFF FOR DEPRESSION AMONG PATIENTS WITH STROKE IN NIGERIA
Annals of Ibadan postgraduate medicine
objective compare differences variation interpretation standards guidelines issued american college medical genetics genomics acmg association molecular pathology amp 2015 2015acmgamp guideline deafness specialist group clinical genome resource clingen 2018 hereditary hearing loss healing loss hl issued expert specification variation interpretation guide 2018 hlep guideline evaluating pathogenicity otof gene variation patients auditory neuropathy methods thirtyeight auditory neuropathy patients otof gene variant selected study subjects 23 males 15 females aged 03259 years using wholegenome sequencing whole exome sequencing target region sequencing panel combined sanger sequencing 38 cases found carry two otof mutation sites total 59 candidate variants independently interpreted based 2015 acmgamp guideline 2018 hlep guideline compared judgment results 2015 acmgamp guideline variants interpreted lower pathogenic classifications 2018 hlep guideline defined downgraded variants variants regarded higher pathogenic classifications defined upgraded variants statistical analysis conducted using spss 200 results concordance rate variant classification guidelines 7294359 136859 variants upgraded 136 859 variants downgraded classifications 2018 hlep guideline couple rules saw significant differences guidelines pvs1 pm3 pp2 pp3 pp5 distribution pathogenicity splicing mutation statistically different p0013 conclusions 2018 hlep guideline inconsistent 2015 acmgamp guideline judging pathogenicity otof gene variants patients auditory neuropathy deletion refinement evidence breaking solidification thinking 2018 hlep guideline makes pathogenicity grading traceable improves credibility