In this paper, we propose a sequential probability ratio test (SPRT) to overcome the problem of limited samples in studies related to complex genetic diseases. The results of this novel approach are compared with the ones obtained from the traditional transmission disequilibrium test (TDT) on simulated data. Although TDT classifies single-nucleotide polymorphisms (SNPs) to only two groups (SNPs associated with the disease and the others), SPRT has the flexibility of assigning SNPs to a third group, that is, those for which we do not have enough evidence and should keep sampling. It is shown that SPRT results in smaller ratios of false positives and negatives, as well as better accuracy and sensitivity values for classifying SNPs when compared with TDT. By using SPRT, data with small sample size become usable for an accurate association analysis.
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http://dx.doi.org/10.1038/ejhg.2011.51 | DOI Listing |
Mol Cancer Ther
January 2025
Indian Institute of Technology Madras, Madras, TN, India.
Most of the triple negative phenotype or basal-like molecular subtypes of breast cancers are associated with aggressive clinical behaviour and show poor disease prognosis. Current treatment options are constrained, emphasizing the need for novel combinatorial therapies for this particular tumor subtype. Our group has demonstrated that functionally active p21 activated kinase 1 (PAK1) exhibits significantly higher expression levels in clinical triple negative breast cancer (TNBC) samples compared to other subtypes, as well as adjacent normal tissues.
View Article and Find Full Text PDFCNS Neurosci Ther
January 2025
Department of Neurology, The Affiliated Brain Hospital of Nanjing Medical University, Nanjing, China.
Objectives: Parkinson's disease (PD) is characterized by olfactory dysfunction (OD) and cognitive deficits at its early stages, yet the link between OD and cognitive deficits is also not well-understood. This study aims to examine the changes in the olfactory network associated with OD and their relationship with cognitive function in de novo PD patients.
Methods: A total of 116 drug-naïve PD patients and 51 healthy controls (HCs) were recruited for this study.
Am J Cancer Res
December 2024
Department of Biomedical Sciences, Discipline of Pharmacology, Edward Via College of Osteopathic Medicine (VCOM) Monroe, LA 71203, USA.
Prostate cancer (PCa) is the second leading cause of cancer-related deaths among American men. The development of metastatic castration resistant PCa (mCRPC) is the current clinical challenge. Antiandrogens such as Enzalutamide (ENZ) are commonly used for CRPC treatment.
View Article and Find Full Text PDFAm J Cancer Res
December 2024
Department of Oncology, Dongying District People's Hospital 333 Jinan Road, Dongying District, Dongying, Shandong, China.
The use of routine adjuvant radiotherapy (RT) after breast-conserving surgery (BCS) is controversial in elderly patients with early-stage breast cancer (EBC). This study aimed to evaluate the efficacy of adjuvant RT for elderly EBC patients using deep learning (DL) to personalize treatment plans. Five distinct DL models were developed to generate personalized treatment recommendations.
View Article and Find Full Text PDFHeart Rhythm O2
December 2024
Department of Electrophysiology, North Mississippi Medical Center, Tupelo, Mississippi.
Background: Historically, percutaneous transcatheter left atrial appendage closure (LAAC) has been performed under general anesthesia (GA) with transesophageal echocardiographic images obtained by a noninvasive cardiologist and usually requires an overnight hospital stay. Alternatively, we present our single-center experience performing LAACs under deep sedation (DS), employing an echocardiographic technician instead of a noninvasive cardiologist, and expediting same-day discharge. Mid- to long-term outcomes were also evaluated with follow-up imaging at a 45-day visit.
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