In large cohort studies the number of unaffected individuals outnumbers the number of affected individuals, and the power can be low to detect associations for outcomes with low prevalence. We consider how including recorded family history in regression models increases the power to detect associations between genetic variants and disease risk. We show theoretically and using Monte-Carlo simulations that including a family history of the disease, with a weighting of 0.
View Article and Find Full Text PDFBackground: The treatment gap for mental and behavioral health (MBH) in the United States (US) remains a major public health concern. Given the growing need for a robust MBH workforce, particularly for underserved populations, calls for integrated MBH in primary care have been mounting. Family medicine providers, who know and can treat all members of a family within the same setting, are uniquely positioned to manage MBH conditions.
View Article and Find Full Text PDFPurpose: Structural variants such as multiexon deletions and duplications are an important cause of disease but are often overlooked in standard exome/genome sequencing analysis. We aimed to evaluate the detection of copy-number variants (CNVs) from exome sequencing (ES) in comparison with genome-wide low-resolution and exon-resolution chromosomal microarrays (CMAs) and to characterize the properties of de novo CNVs in a large clinical cohort.
Methods: We performed CNV detection using ES of 9859 parent-offspring trios in the Deciphering Developmental Disorders (DDD) study and compared them with CNVs detected from exon-resolution array comparative genomic hybridization in 5197 probands from the DDD study.
Background: Socioeconomic status (SES) is an important determinant of healthcare outcomes in many settings, but few studies have evaluated the impact of SES among patients with aortic stenosis (AS). We sought to explore the association between SES and clinical characteristics, care quality and outcomes among patients undergoing transcatheter aortic valve implantation (TAVI) for severe AS.
Methods: Consecutive patients undergoing TAVI for severe AS at three hospitals between August 2008 and February 2023 were prospectively enrolled in a multicentre registry.