SVEXPRESS: IDENTIFYING GENE FEATURES ALTERED RECURRENTLY IN EXPRESSION WITH NEARBY STRUCTURAL VARIANT BREAKPOINTS

SVExpress: identifying gene features altered recurrently in expression with nearby structural variant breakpoints

Abstract Background Combined whole-genome sequencing (WGS) and RNA sequencing of cancers offer the opportunity to identify genes with altered expression due to genomic rearrangements.Somatic structural variants (SVs), as identified by WGS, can involve altered gene cis-regulation, gene fusions, copy number alterations, or gene disruption.The absence

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Hemochromatosis Presenting with Ascites in a Newborn Infant

Background: Although the incidence of neonatal hemochromatosis (NH) is not known exactly, it is one of the causes of acute liver failure in the newborns.NH is a rare iron metabolism disease characterized by excessive iron accumulation in the tissues that onsets in-utero.Here, a patient diagnosed with NH who developed ascites while investigating the

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Sustaining primary care teams in the midst of a pandemic

Abstract The challenges wrought by the COVID-19 pandemic on health systems have tested primary care clinicians, who are on the front lines of care delivery.To ensure the longevity of the primary care workforce, strong interprofessional UITRA PROBIOTIC PLUS teams are one important solution to alleviating burnout and increasing clinician and patient

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