Publications by authors named "Roshni A Patel"

Natural selection on complex traits is difficult to study in part due to the ascertainment inherent to genome-wide association studies (GWAS). The power to detect a trait-associated variant in GWAS is a function of frequency and effect size - but for traits under selection, the effect size of a variant determines the strength of selection against it, constraining its frequency. Recognizing the biases inherent to GWAS ascertainment, we propose studying the joint distribution of allele frequencies across populations, conditional on the frequencies in the GWAS cohort.

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Article Synopsis
  • Regulatory proteins use specific repressor domains (RDs) to control gene expression, but how variations in their sequences affect this function is not well understood.
  • Researchers created a dataset from 115,000 variant sequences to study repressor activity in human cells, identifying clinical variants that alter repression functions, including those linked to certain genetic disorders.
  • They developed a deep learning model called TENet to predict repressor activity based on sequence and structure, aiming to enhance the design of synthetic regulatory proteins and improve how we prioritize functional variants in future research.
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Natural selection on complex traits is difficult to study in part due to the ascertainment inherent to genome-wide association studies (GWAS). The power to detect a trait-associated variant in GWAS is a function of frequency and effect size - but for traits under selection, the effect size of a variant determines the strength of selection against it, constraining its frequency. To account for GWAS ascertainment, we propose studying the joint distribution of allele frequencies across populations, conditional on the frequencies in the GWAS cohort.

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Despite the profound impacts of scientific research, few scientists have received the necessary training to productively discuss the ethical and societal implications of their work. To address this critical gap, we-a group of predominantly human genetics trainees-developed a course on genetics, ethics, and society. We intend for this course to serve as a template for other institutions and scientific disciplines.

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Sexual and gender minority (LGBT+) people face unique health disparities that must be considered by health-care providers to ensure equitable and inclusive care. Although traditionally LGBT+ health has not been integrated into neurology training, sexual orientation and gender identity have direct relevance to neurological health, driven by both systemic and interpersonal factors. In this Review, we summarize the evidence for associations between sexual orientation and gender identity with the prevalence and outcomes of various neurological conditions, including neurodegenerative diseases, epilepsy, stroke and neurodevelopmental disorders, among others.

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Introduction: Community-based exercise programs for Parkinson's disease (PD) have gained popularity. Our understanding of such programs on non-motor features is limited. We characterized the effect of a 12-week community-based boxing exercise program on motor and non-motor symptoms in people with Parkinson's disease (PwPD).

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Background And Objectives: COVID-19 outcomes in patients with neurodegenerative disorders (NDs) are not well understood, and we hypothesize that there may be increased morbidity and mortality in this group.

Methods: This was a retrospective cohort study performed at 3 hospitals in the Chicagoland area. All patients hospitalized with COVID-19 infection with ND during a 3-month period (March 15, 2020-June 15, 2020) were included and compared with age-matched controls (CL) at 1:1 ratio.

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Despite the growing number of genome-wide association studies (GWASs), it remains unclear to what extent gene-by-gene and gene-by-environment interactions influence complex traits in humans. The magnitude of genetic interactions in complex traits has been difficult to quantify because GWASs are generally underpowered to detect individual interactions of small effect. Here, we develop a method to test for genetic interactions that aggregates information across all trait-associated loci.

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Background: Movement disorders can be associated with or caused by hematological abnormalities. The objective of this review is to highlight features that will aid in the clinician's recognition and treatment of these disorders.

Methods: MESH terms relevant to movement disorders and hematologic diseases were searched to identify conditions included in this narrative, educational review.

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Introduction: Acute neuromuscular respiratory failure is a source of morbidity and mortality in neurological diseases, including acute inflammatory demyelinating polyneuropathy (AIDP), also known as Guillain-Barré syndrome. It is important for health care providers to recognize this condition and provide early ventilatory support. In this simulation, learners must assess and treat a standardized patient with acute respiratory complications related to AIDP.

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