Though next-generation sequencing (NGS) tests like exome sequencing (ES), genome sequencing (GS), and panels derived from exome and genome data (EGBP) are effective for rare diseases, the ideal ...diagnostic approach is debated. Limited research has explored reanalyzing raw ES and GS data post-negative EGBP results for diagnostics.
We analyzed complete ES/GS raw sequencing data from Mayo Clinic's Program for Rare and Undiagnosed Diseases (PRaUD) patients to assess whether supplementary findings could augment diagnostic yield. ES data from 80 patients (59 adults) and GS data from 20 patients (10 adults), averaging 43 years in age, were analyzed. Most patients had renal (n=44) and auto-inflammatory (n=29) phenotypes. Ninety-six cases had negative findings and in four cases additional genetic variants were found, including a variant related to a recently described disease (RRAGD-related hypomagnesemia), a variant missed due to discordant inheritance pattern (COL4A3), a variant with high allelic frequency (NPHS2) in the general population, and a variant associated with an initially untargeted phenotype (HNF1A).
ES and GS show diagnostic yields comparable to EGBP for single-system diseases. However, EGBP's limitations in detecting new disease-associated genes underscore the necessity for periodic updates.
Abstract In this exploratory study, we adapted items from a previously developed measure of job satisfaction, the Measure of Job Satisfaction (MJS), an instrument first developed for use with ...community nurses in the UK, to create a brief, 15-item instrument (Job Satisfaction—Brief) applicable to practitioners of school psychology from Pennsylvania ( N = 94). In order to examine the underlying factor structures of the items adapted from the Measure of Job Satisfaction (MJS) instrument, exploratory factor analysis (EFA) was applied in the JAMOVI Version 2.3.19.0 with maximum likelihood estimation to be implemented for the ordered categorical scale. Two factors were extracted from the data: Factor One: Satisfaction with Intrapersonal Development and Clinical Accomplishment and Factor Two: Satisfaction with Advancement, Financial Compensation, and Rank. The uses for the measure and recommended future directions are discussed.
