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We present the analysis of twenty human genomes to evaluate the prospects for identifying rare functional variants that contribute to a phenotype of interest. We sequenced at high coverage ten "case" genomes from individuals with severe hemophilia A and ten "control" genomes. We summarize the number of genetic variants emerging from a study of this(More)
Idiopathic generalized epilepsy (IGE) is a complex disease with high heritability, but little is known about its genetic architecture. Rare copy-number variants have been found to explain nearly 3% of individuals with IGE; however, it remains unclear whether variants with moderate effect size and frequencies below what are reliably detected with genome-wide(More)
PURPOSE To evaluate the variations of multi-lumen balloon (MLB)-based brachytherapy from simulation day to treatment day and their dosimetric impacts during accelerated partial breast irradiation (APBI). MATERIAL AND METHODS A total of 42 CT images scanned from seven patients were evaluated with regards to daily variation due to of: 1) internal(More)
PURPOSE A cylinder applicator is the standard treatment device for intravaginal brachytherapy. However, they are limited in their ability to simultaneously spare the organs at risk (OAR), and reduce the hot spot in the vaginal mucosa, while achieving adequate dose conformality. This study aims to compare the dosimetric characteristics of single and(More)
BACKGROUND To evaluate and compare the biological impact on different proposed margin recipes for the same geometric uncertainties for intra-hepatic tumors with different tumor cell types or clinical stages. METHOD Three different margin recipes based on tumor motion were applied to sixteen IMRT plans with a total of twenty two intra-hepatic tumors. One(More)
Intensity modulated radiotherapy (IMRT) has become an effective tool for cancer treatment with radiation. However, even expert radiation planners still need to spend a substantial amount of time adjusting IMRT optimization parameters in order to get a clinically acceptable plan. We demonstrate that the relationship between patient geometry and radiation(More)
PURPOSE To study translational setup errors of Spine SBRT treatments using BodyFIX immobilization system and the potential for margin reduction using pretreatment imaging. METHODS 148 online match results of 39 Spine SBRT patients treated at our institution were reviewed. All treatments performed using Varian, TrueBeam and MI™, BodyFIX immobilization(More)
Most deformation algorithms use a single-value smoother during optimization. We investigate multi-scale regularizations (smoothers) during the multi-resolution iteration of two non-parametric deformable registrations (demons and diffeomorphic algorithms) and compare them to a conventional single-value smoother. Our results show that as smoothers increase,(More)
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