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A flexible computational pipeline for research analyses of unsolved clinical exome casesExome sequencing has enabled molecular diagnoses for rare disease patients but often with initial diagnostic rates of ~25-30%. Here we develop a robust computational pipeline to rank variants for reassessment of unsolved rare disease patients. A comprehensive web-based patient report is generated in which all deleterious variants can be filtered by gene, variant characteristics, OMIM disease and Phenolyzer scores, and all are annotated with an ACMG classification and links to ClinVar.
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Panel 8: Vaccines and immunologyReview and highlight of the significant advances made towards vaccine development and understanding of the immunology of otitis media
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Antibiotics versus topical antiseptics for chronic suppurative otitis mediaTreatment of chronic suppurative otitis media with topical antibiotics probably results in an increase in resolution of ear discharge compared with boric acid
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Prevalence of chronic wet cough and protracted bacterial bronchitis in aboriginal childrenStrategies to address reasons for and treatment of chronic wet cough and protracted bacterial bronchitis in young Aboriginal children in remote north Western Australia are required
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Spaceship earth revisited: The co‐benefits of overcoming biological extinction of experience at the level of person, place and planetThis commentary focuses the ways in which microbes, as an essential part of all ecosystems, provide a vital link between personal and planetary systems
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Hearing aid review appointment: clients’ reasons for attendance and non-attendanceAppointment attendance is influenced by some factors modifiable by the clinician, including providing better education
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The effect of upgrades to childcare outdoor spaces on preschoolers’ physical activity: Findings from a natural experimentThis natural experiment investigated the influence of early childhood education and care outdoor physical environment upgrade on preschoolers' physical activity
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Higher frequency of vertebrate-infecting viruses in the gut of infants born to mothers with type 1 diabetesWe demonstrate a distinct gut virome profile in infants of mothers with type 1 diabetes, which may influence health outcomes later in life
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Advances in Exercise, Physical Activity, and DiabetesWe screened more than 750 potentially eligible titles on PubMed and other common search engines for manuscripts on “exercise and diabetes”
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Misgendering and experiences of stigma within health care settings for transgender individualsMisgendering within the health care system can significantly affect the mental and physical health of transgender individuals