Seyed Ahmad Firouzabadi, Setareh Sarshad Shadman, Parvaneh Rezasoltani, AbouAli Vedadhir
Painful Dream of Motherhood: A Hermeneutic Phenomenological Study of Married Women with Ectopic Pregnancy in the Islamic Republic of Iran
Journal of religion and health
canonical splice site variants cssvs often presumed cause lossoffunction lof assigned strong evidence pathogenicity according american college medical geneticsassociation molecular pathology criterion pvs1 exact nature predictability splicing effects unselected rare cssvs bloodexpressed genes poorly understood identified 168 rare cssvs bloodexpressed genes 112 individuals using genome sequencing studied impact splicing using rna sequencing rnaseq evidence frameshift reduced expression consistent nonsensemediated decay 256 cssvs 179 wildtype splicing normal junction depths 36 resulted cryptic splice site usage inframe insertions deletions 36 resulted full exon skipping frame 06 resulted full intron inclusion frame blind rnaseq data attempted predict precise impact cssvs applying silico tools clingen sequence variant interpretation working group 2018 guidelines applying pvs1 criterion predicted impact splicing using 1 spliceai 2 maxentscan 3 autopvs1 automatic classification tool pvs1 interpretation null variants utilizes ensembl variant effect predictor maxentscan concordant rnaseq analyses 65 63 61 cssvs respectively summary approximately one four rare cssvs show evidence lof based analysis rnaseq data predictions silico methods often discordant findings rnaseq caution may warranted applying pvs1level evidence cssvs absence functional data