Mashael Alowais, Georgina Rudd, Victoria Besa, Hamde Nazar, Tejal Shah, Clare Tolley
Digital literacy in undergraduate pharmacy education: a scoping review
Journal of the American Medical Informatics Association : JAMIA
study aimed provide comprehensive diagnostic candidate analyses pediatric rare disease cohort genomic answers kids program extensive analyses 960 families suspected genetic disorders included shortread exome sequencing shortread genome sequencing srgs pacbio hifi longread genome sequencing hifigs variant calling single nucleotide variants snv structural variant sv repeat variants machinelearning variant prioritization structured phenotypes prioritized variants pedigrees stored phenotips database data sharing controlled access database genotypes phenotypes diagnostic rates ranged 11 patients prior negative genetic testing 345 naive patients incorporating svs genome sequencing added 13 new diagnoses previously unsolved cases hifigs yielded increased discovery rate 4fold rare coding svs compared srgs variants genes unknown significance remain common finding 58 nondiagnostic cases computational prioritization efficient diagnostic snvs thorough identification nonsnvs remains challenging partly mitigated using hifigs sequencing importantly community research supported sharing realtime data accelerate gene validation providing hifi variant snvsv resources 1000 human alleles facilitate implementation new sequencing platforms rare disease diagnoses