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Recent Submissions

  • Amniotic membrane allografts: development and clinical utility in ophthalmology

    Lazzaro, Douglas; Rizzuti, Allison; Goldenberg, Adam (Informa UK Limited, 2014-12)
    Amniotic membrane, the innermost layer of the placenta, is a tissue that promotes epithelialization, while decreasing inflammation, neovascularization, and scarring. It is used in the surgical management of a wide variety of ophthalmic conditions where it functions as a graft or patch in ocular surface reconstruction. The development of new preservation techniques, as well as a sutureless amniotic membrane, has allowed for easier, in-office placement, without the disadvantages of an operating room procedure. The purpose of this review is to describe the historical development of amniotic membrane in ophthalmology and to describe its current clinical applications, particularly focusing on recent advances.
  • Scope of resident ophthalmology consultation service and patient follow-up rates at a level 1 trauma center in Brooklyn, New York

    Rizzuti, Allison; Vastardi; Hajee, Mohammedyusuf; Lazzaro (Informa UK Limited, 2013-03)
    Background: The purpose of this study was to investigate the most common reasons for urgent ophthalmology consultations in both the emergency room and inpatient settings at a large public hospital served by a busy ophthalmology residency program, and to track patient follow-up rates. Methods: We reviewed the medical records of all patients evaluated by the ophthalmology consultation service at Kings County Hospital Center from June 2003 to October 2005 using a retrospective hospital-based study design. We categorized emergency room patients and inpatients into traumatic and nontraumatic subgroups, and looked at diagnoses and patient demographics, as well as follow-up patterns for emergency room consultations. Results: In total, 743 patients were evaluated; 436 (59%) were emergency room patients and 307 (41%) were inpatients. Consultation for traumatic eye injury was provided for 399 patients (54%), accounting for 284 (65%) of the emergency room consults and 115 (37.5%) of the inpatient consults. The most common reason for inpatient consultation was to rule out ocular manifestations of systemic disease (57 patients, 29.7%), while the most common final diagnosis for trauma inpatient consultation was orbital wall fracture (59 patients, 51.3%). In total, 262 patients (60%) in the emergency room consultation group returned for follow-up care; 162 (57%) of the trauma patients followed up and 100 (66%) of the nontrauma patients followed up. Conclusion: This study provides a comprehensive analysis of the eye conditions and follow-up rates evaluated by the ophthalmology service at Kings County Hospital Center. By evaluating the follow-up patterns of these patients, we may be able to alter patient counseling to increase patient compliance.
  • Reversible severe pulmonary hypertension and right heart failure with cardiogenic shock due to scurvy: a case report

    Kurnick, Adam; Zaveri, Sahil; Tadayoni, Ashkan; Chandrakumar, Harshith P; John, Sabu (Oxford University Press (OUP), 2023-08-17)
    Background: The systemic complications of vitamin C deficiency, otherwise known as scurvy, have been well-documented in history. Few case reports have documented severe cardiopulmonary complications such as right heart failure (RHF) and pulmonary hypertension (PH). Case summary: A 25-year-old female presented to the hospital with two weeks of progressive fatigue, dyspnoea, myalgias, and arthralgias. She was admitted for symptomatic anaemia requiring transfusion. Her symptoms persisted and she developed severe PH and RHF, complicated by cardiogenic shock and multiple episodes of cardiac arrest. She was found to have severe vitamin C deficiency secondary to a severely self-restricted diet. After repletion of vitamin C, the patient had complete resolution of RHF and PH. Discussion: This case adds to the sparse literature documenting severe cardiopulmonary complications of vitamin C deficiency. We believe that this is the first adult case of scurvy causing RHF and PH leading to cardiogenic shock and episodes of cardiac arrest. There are multiple hypotheses on the pathogenesis of scurvy-associated PH and RHF, including overactivation of hypoxia-inducible transcription factors and deficiency of vitamin C's vasodilatory effect that acts through increased nitric oxide production in endothelial cells. When recognized, early vitamin C repletion may prevent severe cardiopulmonary complications of scurvy.
  • Protein Phosphatase 2A as a Therapeutic Target in Pulmonary Diseases

    Yu, Howard; Zaveri, Sahil; Sattar, Zeeshan; Schaible, Michael; Perez Gandara, Brais; Uddin, Anwar; McGarvey, Lucas R.; Ohlmeyer, Michael; Geraghty, Patrick (MDPI AG, 2023-08-26)
    New disease targets and medicinal chemistry approaches are urgently needed to develop novel therapeutic strategies for treating pulmonary diseases. Emerging evidence suggests that reduced activity of protein phosphatase 2A (PP2A), a complex heterotrimeric enzyme that regulates dephosphorylation of serine and threonine residues from many proteins, is observed in multiple pulmonary diseases, including lung cancer, smoke-induced chronic obstructive pulmonary disease, alpha-1 antitrypsin deficiency, asthma, and idiopathic pulmonary fibrosis. Loss of PP2A responses is linked to many mechanisms associated with disease progressions, such as senescence, proliferation, inflammation, corticosteroid resistance, enhanced protease responses, and mRNA stability. Therefore, chemical restoration of PP2A may represent a novel treatment for these diseases. This review outlines the potential impact of reduced PP2A activity in pulmonary diseases, endogenous and exogenous inhibitors of PP2A, details the possible PP2A-dependent mechanisms observed in these conditions, and outlines potential therapeutic strategies for treatment. Substantial medicinal chemistry efforts are underway to develop therapeutics targeting PP2A activity. The development of specific activators of PP2A that selectively target PP2A holoenzymes could improve our understanding of the function of PP2A in pulmonary diseases. This may lead to the development of therapeutics for restoring normal PP2A responses within the lung.
  • A Case of Multifactorial Viral Myocarditis

    Zaveri, Sahil; Tagliaferri, Ariana R; Woldemariam, Sara; Aron, Polina; Palacios, Carlos; Melki, Gabriel; Michael, Patrick (Springer Science and Business Media LLC, 2021-10-21)
    We present a case of viral myocarditis in the setting of Coxsackievirus and coronavirus disease 2019 (COVID-19) infection. This case is unique as there were two underlying active infections that could have caused the patient's myocarditis. Though both viruses have been shown to cause myocarditis, it was difficult to differentiate the exact etiology in this particular case. The unique nature of this case presents the opportunity to explore whether further diagnostic workup is warranted.
  • Adolescents as partners in the fight against COVID-19.

    Kest, Helen; Kaushik, Ashlesha; Jagunla, Anne; Shaheen, Somia; Zaveri, Sahil; Fernandez, Ninia; Gupta, Sandeep; Goldberg, David (2021-10-28)
    We report our experience of COVID-19 disease burden among patients aged 0-21 years at two tertiary care institutions in the Northeast and Midwest from New Jersey and Iowa. Our results showed that during the initial surge (March to August 2020) at both geographic locations, majority of COVID-19 disease burden occurred in adolescents and that they were more likely to be hospitalized for COVID-related illnesses, as well as develop severe disease needing intensive care. The study results emphasize the need for providing more targeted interventions toward this group to help prevent disease acquisition and transmission.
  • An Unusual Case of Acute Postoperative Hypokalemic Thyrotoxic Periodic Paralysis

    Isabel, Mora; Zaveri, Sahil; Bhavin, Shah; Dianelys, Mendez; Iqra, Farooqi; Gabriel, Melki; Monisha, Singhal (sPage.direcT, 2022-06-30)
    Thyrotoxic periodic paralysis (TPP) is an acute condition characterized by sudden onset of muscle weakness and paralysis in the setting of hypokalemia. This condition has the highest incidence in Asian males but is becoming increasingly common in individuals of different ethnicities as well. Herein, we present a unique case of a Hispanic male with no previous medical history of hyperthyroidism presenting with symptoms of TPP due to a hypothesized postoperative catecholamine surge. This case highlights the importance of recognizing and treating this condition early to prevent dangerous complications such as arrhythmias and respiratory failure.
  • Arterioureteral Fistula in the Setting of Radical Cystoprostatectomy and Ileal Conduit Creation.

    Zaveri, Sahil; Shah, Bhavin; Soufi, Mazhar; Moszczynski, Zbigniew; Zuberi, Jamshed (2022-04-27)
    Arterioureteral fistulas (AUF) following ileal conduit reconstruction are rare and not well-studied. We present a life-threatening bleed from an AUF due to an ileal conduit urinary diversion. In addition, we identify the challenges in the diagnostic process as well as management strategies. We present a 63-year-old male with ileal conduit reconstruction for bladder cancer with an AUF developing years after the reconstruction, which was ultimately managed with angioplasty.
  • COVID-19 Vaccine Cardiac Complications: A Case Series on Implications of Marijuana in Adolescents With Myopericarditis.

    Zaveri, Sahil; Kest, Helen; Shah, Bhavin; DeBruin, William; Colletti, Mario (2022-05-02)
    We report on two critically ill pediatric patients, aged 16 and 18 years, presenting with acute myopericarditis at a tertiary-care center in New Jersey, United States. Both patients had their severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) vaccinations, tested negative for SARS-CoV-2, and shared only significant history of asthma. Clinical presentations were similar to acute onset chest pain that worsened with deep inspiration. One patient reported a history of vaping and escalating marijuana use several hours preceding presentation. Both patients had elevated troponin on admission and had ST-segment elevation on electrocardiogram (EKG), thus prompting admission to the pediatric intensive care unit (PICU) for cardiac monitoring. Myopericarditis has multiple etiologies and is a newly described rare complication of the SARS-CoV-2 vaccine. It can also occur as a complication of vaping and frequent marijuana drug use. Our paper highlights the importance of a detailed social and drug history in adolescents presenting with chest pain. The clinical characterization is necessary to promote better case definitions and the design of targeted interventions for this vulnerable group.
  • Mask-Induced Partial Transection of the External Ear Requiring Complex Surgical Reconstruction.

    Koti, Bharat; Zaveri, Sahil; Shah, Bhavin; Anand, Shubhankar; Tagliaferri, Ariana R (2022-05-27)
    During the COVID-19 pandemic, wearing masks to prevent the spread of infection has been imperative. Though many wear N-95 masks with circumferential head straps, the use of surgical ear loop-style masks has increased. Dermatologic complications, such as contact dermatitis, psoriasis, and local irritation, have been described in several reports. One such complication has been pressure injury to the external ear, secondary to friction from the ear loops. While external ear pressure ulcers caused by mask-wearing have already been observed, injuries extensive enough to require surgical reconstruction have yet to be described. Herein, we present a unique case of an elderly male with a severe external ear deformity caused by prolonged, uninterrupted mask-wearing that was treated with a complex ear reconstruction. The pressure caused a full-thickness erosion of the helical and conchal cartilage with partial auricle amputation from constant mask wear. We describe an unusual and interesting problem caused indirectly by the coronavirus pandemic and discuss potential methods to protect oneself against skin injury from mask usage while simultaneously preventing viral transmission.
  • Epidemiologic Characteristics of Adolescents with COVID-19 Disease with Acute Hypoxemic Respiratory Failure.

    Kest, Helen; Kaushik, Ashlesha; Shaheen, Somia; Debruin, William; Zaveri, Sahil; Colletti, Mario; Gupta, Sandeep (2022-09-05)
    We report our experience of COVID-19 disease with hypoxemic respiratory failure among patients aged 12-21 years admitted to the intensive care unit at two tertiary care institutions in Northeastern and Midwestern United States. Our results showed that during the main study period that spanned the initial surge at both geographic locations, adolescents with SARS-COV-2 infection admitted to the ICU with respiratory failure were more likely to be male, black, and morbidly obese and with two or more comorbidities. The majority (79%) were admitted with COVID-19-related pneumonia and 15 developed respiratory failure; two-thirds of patients with respiratory failure (9/15, 60%) required mechanical ventilation (MV). More than two-thirds of patients (11/15, 75%) with respiratory failure were obese with BMI > 30 compared to those without respiratory failure ( < 0.0001), and those with BMI > 40 were 4.3 times more likely to develop respiratory failure than those with normal BMI; 40% of patients with respiratory failure had two or more pre-existing medical comorbidities. Inflammatory markers were 2-20 times higher in patients with respiratory failure ( < 0.05). The majority of patients on MV (7/9) developed complications, including ARDS (acute respiratory distress syndrome), acute renal injury, and cerebral anoxic encephalopathy. Patients with respiratory failure had a significantly longer length of hospital stay than patients without respiratory failure ( < 0.05). The majority of the admitted adolescents in the ICU received steroid treatment. None of the patients died. An additional review of a 6-month postvaccination approval period indicated that the majority of ICU admissions were unvaccinated, obese, black patients and all patients who developed respiratory failure were unvaccinated. Our study highlights and supports the need for maximizing opportunities to address vaccination and healthcare gaps in adolescents as well as promoting public health measures including correct use of masks, effective vaccination campaigns for this age group, and additional passive preventive interventions for COVID-19 disease in adolescents especially with comorbid conditions, and in minority populations.
  • Acute Hepatitis C After Penile Stem Cell Injection.

    Zaveri, Sahil; Tagliaferri, Ariana; Shah, Bhavin; Melki, Gabriel; Michael, Patrick (2022-11-24)
    Hepatitis C is a viral infection that is transmitted via blood or other bodily fluids and usually manifests as a chronic infection. We present a unique case of acute hepatitis C from a penile stem cell injection. Although previous cases have reported the reactivation of chronic hepatitis C after hematopoietic stem cell transplantation, it is uncommon for hepatitis C to present acutely, especially in an immunocompetent patient. To our knowledge, this is the first case of acute hepatitis C after a penile stem cell injection.
  • Pathophysiology of Cav1.3 L-type calcium channels in the heart

    Zaveri, Sahil; Srivastava, Ujala; Qu, Yongxia Sarah; Chahine, Mohamed; Boutjdir, Mohamed (Frontiers Media SA, 2023-03-21)
    Ca2+ plays a crucial role in excitation-contraction coupling in cardiac myocytes. Dysfunctional Ca2+ regulation alters the force of contraction and causes cardiac arrhythmias. Ca2+ entry into cardiomyocytes is mediated mainly through L-type Ca2+ channels, leading to the subsequent Ca2+ release from the sarcoplasmic reticulum. L-type Ca2+ channels are composed of the conventional Cav1.2, ubiquitously expressed in all heart chambers, and the developmentally regulated Cav1.3, exclusively expressed in the atria, sinoatrial node, and atrioventricular node in the adult heart. As such, Cav1.3 is implicated in the pathogenesis of sinoatrial and atrioventricular node dysfunction as well as atrial fibrillation. More recently, Cav1.3 de novo expression was suggested in heart failure. Here, we review the functional role, expression levels, and regulation of Cav1.3 in the heart, including in the context of cardiac diseases. We believe that the elucidation of the functional and molecular pathways regulating Cav1.3 in the heart will assist in developing novel targeted therapeutic interventions for the aforementioned arrhythmias.
  • A Rare Case of Coexisting Mutation in Desmin and Thioredoxin Reductase 2 Genes Causing Dilated Cardiomyopathy

    Khatun, Nazima; Zaveri, Sahil; Salciccioli, Louis; John, Sabu (Springer Science and Business Media LLC, 2023-06-17)
    Desmin (DES) maintains the overall structure of cardiomyocytes and cytoskeletal organization within striated muscle cells. Mitochondrial thioredoxin reductase 2 (TXNRD-2) is essential for mitochondrial oxygen radical scavenging. We describe a rare case of dilated cardiomyopathy (DCM) in an 18-year-old female with a heterozygous mutation involving both DES and TXNRD-2 genes.
  • Ethnic and racial differences in Asian populations with ion channelopathies associated with sudden cardiac death

    Zaveri, Sahil; Qu, Yongxia Sarah; Chahine, Mohamed; Boutjdir, Mohamed (Frontiers Media SA, 2023-08-04)
    Cardiovascular diseases are associated with several morbidities and are the most common cause of worldwide disease-related fatalities. Studies show that treatment and outcome-related differences for cardiovascular diseases disproportionately affect minorities in the United States. The emergence of ethnic and racial differences in sudden cardiac death (SCD) and related ion channelopathies complicates cardiovascular disease prevention, diagnosis, management, prognosis, and treatment objectives for patients and physicians alike. This review compiles and synthesizes current research in cardiac ion channelopathies and genetic disorders in Asian populations, an underrepresented population in cardiovascular literature. We first present a brief introduction to SCD, noting relevant observations and statistics from around the world, including Asian populations. We then examined existing differences between Asian and White populations in research, treatment, and outcomes related to cardiac ion channelopathies and SCD, showing progression in thought and research over time for each ion channelopathy. The review also identifies research that explored phenotypic abnormalities, device usage, and risk of death in Asian patients. We touch upon the unique genetic risk factors in Asian populations that lead to cardiac ion channelopathies and SCD while comparing them to White and Western populations, particularly in the United States, where Asians comprise approximately 7% of the total population. We also propose potential solutions such as improving early genetic screening, addressing barriers affecting access to medical care and device utilization, physician training, and patient education on risks.
  • Prognosis Individualized: Survival predictions for WHO grade II and III gliomas with a machine learning-based web application

    Karabacak, Mert; Jagtiani, Pemla; Carrasquilla, Alejandro; Germano, Isabelle M.; Margetis, Konstantinos (Springer Science and Business Media LLC, 2023-10-26)
    WHO grade II and III gliomas demonstrate diverse biological behaviors resulting in variable survival outcomes. In the context of glioma prognosis, machine learning (ML) approaches could facilitate the navigation through the maze of factors influencing survival, aiding clinicians in generating more precise and personalized survival predictions. Here we report the utilization of ML models in predicting survival at 12, 24, 36, and 60 months following grade II and III glioma diagnosis. From the National Cancer Database, we analyze 10,001 WHO grade II and 11,456 grade III cranial gliomas. Using the area under the receiver operating characteristic (AUROC) values, we deploy the top-performing models in a web application for individualized predictions. SHapley Additive exPlanations (SHAP) enhance the interpretability of the models. Top-performing predictive models are the ones built with LightGBM and Random Forest algorithms. For grade II gliomas, the models yield AUROC values ranging from 0.813 to 0.896 for predicting mortality across different timeframes, and for grade III gliomas, the models yield AUROCs ranging from 0.855 to 0.878. ML models provide individualized survival forecasts for grade II and III glioma patients across multiple clinically relevant time points. The user-friendly web application represents a pioneering digital tool to potentially integrate predictive analytics into neuro-oncology clinical practice, to empower prognostication and personalize clinical decision-making.
  • Technical Optimization of Decompressive Craniectomy for Possible Conversion to Hinge Craniotomy in Traumatic Brain Injury

    Ahmed, Abdul-Kareem; Jagtiani, Pemla; Jones, Salazar (Springer Science and Business Media LLC, 2023-05-31)
    Hinge craniotomy for the management of elevated intracranial pressure (ICP) in traumatic brain injury remains a technique not widely adopted. The hinged bone flap decreases the allowable intracranial volume expansion, which can lead to persistent post-operative elevated ICP and the need for salvage craniectomy. Herein, we describe the technical nuances in performing a decompressive craniectomy that, when optimized, allows for stronger consideration for hinge craniotomy as a definitive technique. To conclude, hinge craniotomy is a reasonable option in the setting of traumatic brain injury. Trauma neurosurgeons can consider the technical steps to optimize a decompressive craniectomy and perform hinge craniotomy when allowable.
  • A patient-centered evaluation of a novel medical student-based patient navigation program

    Wilson, Jeremy; Lau, Derrick; Kristoferson, Eva; Ginzler, Ellen; Kabani, Naureen (Elsevier BV, 2024-03)
    Objectives: Understand the patient experience of a pilot medical student-based patient navigator (PN) program. (2) Assess areas of improvement for further development as a model for expansion. Methods: This was a cross-sectional study assessing patients' subjective experience of medical student navigators for rheumatological conditions. Current student navigators contacted enrolled patients by phone with both structured and free-response questions. Results: 44 of 71 patients completed the questionnaire. 84% reported a satisfaction of ≥ 4 on a 5 point Likert scale. > 80% of patients felt that the program helped them better care for their health, feel more understood by their medical team, and feel cared for by their healthcare team. Medical student navigators were able to assist with most patient requests. Conclusions: Patients enrolled in our medical student PN program expressed high levels of satisfaction and felt better able to access health resources with the help of a navigator. Practice implications: Employing medical students as PNs may serve as a mutually beneficial intervention providing early clinical exposure to students while furthering patient access to care. Other institutions may benefit from similarly structured interventions.
  • Artificial intelligence-enhanced electrocardiography for accurate diagnosis and management of cardiovascular diseases

    Muzammil, Muhammad Ali; Javid, Saman; Afridi, Azra Khan; Siddineni, Rupini; Shahabi, Mariam; Haseeb, Muhammad; Fariha, F.N.U.; Kumar, Satesh; Zaveri, Sahil; Nashwan, Abdulqadir J. (Elsevier BV, 2024-03)
    Electrocardiography (ECG), improved by artificial intelligence (AI), has become a potential technique for the precise diagnosis and treatment of cardiovascular disorders. The conventional ECG is a frequently used, inexpensive, and easily accessible test that offers important information about the physiological and anatomical state of the heart. However, the ECG can be interpreted differently by humans depending on the interpreter's level of training and experience, which could make diagnosis more difficult. Using AI, especially deep learning convolutional neural networks (CNNs), to look at single, continuous, and intermittent ECG leads that has led to fully automated AI models that can interpret the ECG like a human, possibly more accurately and consistently. These AI algorithms are effective non-invasive biomarkers for cardiovascular illnesses because they can identify subtle patterns and signals in the ECG that may not be readily apparent to human interpreters. The use of AI in ECG analysis has several benefits, including the quick and precise detection of problems like arrhythmias, silent cardiac illnesses, and left ventricular failure. It has the potential to help doctors with interpretation, diagnosis, risk assessment, and illness management. Aside from that, AI-enhanced ECGs have been demonstrated to boost the identification of heart failure and other cardiovascular disorders, particularly in emergency department settings, allowing for quicker and more precise treatment options. The use of AI in cardiology, however, has several limitations and obstacles, despite its potential. The effective implementation of AI-powered ECG analysis is limited by issues such as systematic bias. Biases based on age, gender, and race result from unbalanced datasets. A model's performance is impacted when diverse demographics are inadequately represented. Potentially disregarded age-related ECG variations may result from skewed age data in training sets. ECG patterns are affected by physiological differences between the sexes; a dataset that is inclined toward one sex may compromise the accuracy of the others. Genetic variations influence ECG readings, so racial diversity in datasets is significant. Furthermore, issues such as inadequate generalization, regulatory barriers, and interpretability concerns contribute to deployment difficulties. The lack of robustness in models when applied to disparate populations frequently hinders their practical applicability. The exhaustive validation required by regulatory requirements causes a delay in deployment. Difficult models that are not interpretable erode the confidence of clinicians. Diverse dataset curation, bias mitigation strategies, continuous validation across populations, and collaborative efforts for regulatory approval are essential for the successful deployment of AI ECG in clinical settings and must be undertaken to address these issues. To guarantee a safe and successful deployment in clinical practice, the use of AI in cardiology must be done with a thorough understanding of the algorithms and their limits. In summary, AI-enhanced electrocardiography has enormous potential to improve the management of cardiovascular illness by delivering precise and timely diagnostic insights, aiding clinicians, and enhancing patient outcomes. Further study and development are required to fully realize AI's promise for improving cardiology practices and patient care as technology continues to advance.
  • BCFtools/liftover: an accurate and comprehensive tool to convert genetic variants across genome assemblies

    Genovese, Giulio; Rockweiler, Nicole B; Gorman, Bryan R; Bigdeli, Tim B; Pato, Michelle T; Pato, Carlos N; Ichihara, Kiku; McCarroll, Steven A (Oxford University Press (OUP), 2024-01-23)
    Motivation: Many genetics studies report results tied to genomic coordinates of a legacy genome assembly. However, as assemblies are updated and improved, researchers are faced with either realigning raw sequence data using the updated coordinate system or converting legacy datasets to the updated coordinate system to be able to combine results with newer datasets. Currently available tools to perform the conversion of genetic variants have numerous shortcomings, including poor support for indels and multi-allelic variants, that lead to a higher rate of variants being dropped or incorrectly converted. As a result, many researchers continue to work with and publish using legacy genomic coordinates. Results: Here we present BCFtools/liftover, a tool to convert genomic coordinates across genome assemblies for variants encoded in the variant call format with improved support for indels represented by different reference alleles across genome assemblies and full support for multi-allelic variants. It further supports variant annotation fields updates whenever the reference allele changes across genome assemblies. The tool has the lowest rate of variants being dropped with an order of magnitude less indels dropped or incorrectly converted and is an order of magnitude faster than other tools typically used for the same task. It is particularly suited for converting variant callsets from large cohorts to novel telomere-to-telomere assemblies as well as summary statistics from genome-wide association studies tied to legacy genome assemblies. Availability and implementation: The tool is written in C and freely available under the MIT open source license as a BCFtools plugin available at http://github.com/freeseek/score.

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