Publications by authors named "T M Fitzgerald"
Summary: Linear mixed models are a commonly used statistical approach in genome-wide association studies when population structure is present. However, naive permutations of the phenotype to empirically estimate the null distribution of a statistic of interest are not appropriate in the presence of population structure or covariates. This is because the samples are not exchangeable with each other under the null hypothesis, and because permuting the phenotypes breaks the relationship among those and eventual covariates.
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.
Motivation: Genome-wide association studies (GWAS) have been remarkably successful in identifying associations between genetic variants and imaging-derived phenotypes. To date, the main focus of these analyses has been on established, clinically-used imaging features. We sought to investigate if deep learning approaches can detect more nuanced patterns of image variability.
View Article and Find Full Text PDFArticle Synopsis
- - Psoriatic arthritis (PsA) is a long-term inflammatory disease that requires ongoing treatment, with options like guselkumab and IL-17A inhibitors (ixekizumab, secukinumab) approved for use in adults by the FDA.
- - A retrospective analysis studied adults with PsA who started treatment with either guselkumab or IL-17A inhibitors, assessing how long they continued their therapy based on insurance claims data from July 2020 to June 2022.
- - Results showed that patients on guselkumab were significantly more likely to stick with their treatment for at least a year compared to those on IL-17A inhibitors, with longer median persistence and lower discontinuation rates for the gus
Purpose: For patients with hepatocellular carcinoma (HCC), stereotactic body radiation therapy (SBRT) has emerged as a locoregional treatment. Our purpose was to report outcomes in patients with HCC with Child-Pugh A (CP A) versus Child-Pugh B or C (CP B/C) liver dysfunction treated with SBRT.
Methods And Materials: A retrospective analysis of 80 patients with HCC, with a total of 94 tumors treated with SBRT, was conducted at a single institution.