Digital Commons Network^™

Uji Kelayakan Teknis Dan Performa Auvest: Rompi Pendingin Otomatis Berbasis Wearable Thermoelectric Cooler Untuk Mitigasi Risiko Heat Stress, Muchammad Adam Wildan, Amelia Avril Rayhana, Nadia Hanifan Nabila, Bian Shabri Putri Irwanto

National Journal of Occupational Health and Safety

Heat stress is a serious threat to construction workers that can reduce productivity and even threaten lives. Existing cooling vest innovations still have limitations, such as weight, manual systems, and the risk of leakage. This study aims to analyze the effectiveness of the Automatic Vest (AUVEST), an automatic cooling vest based on Wearable Thermoelectric Cooler and the Internet of Things (IoT), in preventing the risk of heat stress. The method used is experimental with trials on one construction worker in indoor and outdoor environments. AUVEST is equipped with temperature sensors (DS18B20, TMP102) and humidity (DHT11), whose data is processed by …

Microbial Infections And Psychological Disorders Resulting From Drug Abuse: Review, Zainab Sahib A. Quraish, Noora A. Hassan

Muthanna Medical Journal

Drug abuse fact still continue one of the prevalent global issue today and one of the primary reasons of precocious death. Additionally, people also may be infected with one or more infections, disserve human capabilities and prevent dissemination opportunities for growth and economic prosperity. This is an extremely dangerous matter, causing a deterioration in the security and economic situation and a decline in the standard of living of families. This necessitates rapid intervention by the competent authorities to curb and eradicate this phenomenon. Economic and health consequences. The aim is to encouraged to study relationships between drug abuse and increased …

Viral Etiologies Of Urinary Tract Infections: A Comprehensive Review, Husam Hussein Lazim

Muthanna Medical Journal

While urinary tract infections (UTIs) are predominantly caused by bacteria, this review highlights the significant and often overlooked role of viruses as etiological agents, particularly in immunocompromised populations. Viruses such as BK polyomavirus, adenovirus, cytomegalovirus (CMV), and herpes simplex virus (HSV) can directly infect the urothelium, causing conditions like hemorrhagic cystitis, dysuria, and sterile pyuria that closely mimic bacterial UTIs. Other viruses, including JC polyomavirus, varicella-zoster virus (VZV), and SARS-CoV-2, are associated with urinary tract dysfunction through different mechanisms, such as asymptomatic viruria, neurogenic pathways, or post-viral inflammation. In contrast, systemic viruses like filoviruses and hantaviruses cause acute kidney injury …

Prevalence Of Tobacco Use And Awareness Of Its Effects Among First Grade Of University Students, Yaseen T. Srhan

Muthanna Medical Journal

Background: Tobacco is a leading cause of preventable mortality and morbidity. College students are at high risk of smoking as they are prone to higher availability of cigarettes and stress. Although medical students are aware about the health hazards of tobacco smoking, they, as well as physicians, smoke. Consumption of tobacco and tobacco products, by smoking in particular, is considered to impose a net social cost to society. Smoking and tobacco use are increasingly considered to have acquired the dimensions of an epidemic. Aim: The study estimates the prevalence of smoking and assesses socio-demographic correlates of smoking and characteristics of …

Comparative Study Of Combined Darn And Mesh Vs Mesh-Only Repair In The Management Of Primary Adult Male Inguinal Hernia, Samer Makki Mohamed Al Hakkak

Muthanna Medical Journal

Background: The research was conducted to compare the efficacy and postoperative outcomes of combined mesh and darn (CMD) repair versus mesh alone (MA) repair in adult patients with inguinal hernia, with a focus on recurrence rates and the occurrence of postoperative complications. In the realm of general surgical practice, open surgery remains a viable treatment option for primary inguinal hernia, alongside the availability of laparoscopic procedures. Materials and Methods: A prospective, randomized controlled trial was conducted of 404 adult patients with primary inguinal hernias undergoing surgery in selected hospitals between February 2020 and January 2023. Comparative parameters were length of …

Global Preferences And Determinant Variables Of Caesarean Delivery Among Pregnant Women: A Systematic Review And Meta-Analysis, Mitiku Tefera, Lijalem Jemberu, Eyob Getachew, Getnet Alemu Andarge, Kedir Seid, Gebeyehu Lakew, Amlaku Nigusie Yirsaw, Eyob Ketema Bogale

Sultan Qaboos University Medical Journal

A caesarean section (CS) is a lifesaving procedure. With rising rates, women’s delivery choices have become a global concern. This review assesses global CS preference and determinants. A search of 6 databases was conducted (PubMed, Medline, EMBASE, CINAHL, Google Scholar and Maternity and Infant Care) in accordance with PRISMA guidelines, including papers published between 2013 and 2024. Egger’s test and funnel plot assessed publication bias, while the I2 statistic and Cochrane Q-test evaluated heterogeneity. Subgroup analysis considered sample size, publication year and economic condition. Initially, 73 articles were identified, of which 13 were deemed suitable, with a total sample size …

An Advanced Multi-Branch Recurrent Deep Learning Model For Predicting The Antibacterial Capacity Of Nanoparticles With Shap-Based Explainability, Shaimaa M.S. Zainulabdeen, Najee B. Haifaa, Iman Ali Atiyah

Muthanna Medical Journal

The antibacterial properties of nanoparticles play a crucial role in industries such as textiles, water disinfection, pharmaceuticals, and food packaging. Given the rising concerns over antibiotic resistance, metal oxide nanoparticles (NPs) have emerged as a promising alternative. While machine learning techniques in nano informatics have shown encouraging results in predicting the antibacterial efficacy of nanoparticles, the application of deep learning methods in this domain remains limited. This study introduces a novel predictive model based on a multi-branch recurrent neural network, incorporating three types of recurrent cells: LSTM, BiLSTM, and GRU, to estimate the antibacterial effectiveness of nanoparticles. The proposed model …

Thermal And Photonic Stress Effects On Pharmaceutical Medications: A Medical Physics Evaluation Using In-Vivo Models, Ammar Alhasan

Muthanna Medical Journal

Pharmaceutical stability is critical to ensuring medications efficacy and patient safety, particularly in prehospital environments where medication are exposed to extremely environmental conditions. This study evaluates the influence of temperature and light on medication permanency, focusing on medications that are frequently used in Advanced Life Support (ALS) settings, and inspects the medical physics belongings of degraded on liver and kidney functions as well as hematological considerations. Guidelines from the U.S. Pharmacopeia (USP) and Food and Drug administration (FDA) emphasize the significance of controlled storage conditions, nevertheless prehospital environments often exceed recommended temperature ranges (15–30°C). In vivo studies that compared fresh …

Purified Β-Glucan From Enterococcus Faecium As Antibacterial And Antibiofilm Agent Against Mdr Gram-Positive Wound Infections Causative Bacteria, Entissar Hussain Abdulhameed, Jehan Abdul Sattar Salman

Muthanna Medical Journal

Background: The investigation focused on MDR- gram positive isolated from wounds infections and assessed their ability for biofilm formation. The effect of purified β- glucan produced from E. faecium on the growth and biofilm of MDR wound isolates was studied. Methods: One hundred and thirty-five samples were collected from hospitals in Baghdad, Iraq, resulting in the isolation of nine isolates of Staphylococcus spp. and Streptococcus spp., which were grown, examined microscopically, biochemically, and identified by Vitek2. Their susceptibility to ten antibiotics were evaluated, and their capacity to produce biofilms were examined. The antibiofilm impact of pure β-glucan was evaluated after …

How Esg Performance Influences Financial Performance In Europe: Unpacking The Mediation Effect Of Green Innovation, Esa Panganti Widoretno, Anawinta Choirunnisa, Mirza Aulia Nur Fajri

Jurnal Akuntansi dan Keuangan Indonesia

Background: Global sustainability challenges and EU regulations, such as Directive 2014/95/EU, drive firms to adopt ESG practices, yet their financial impact remains debated. ESG initiatives are increasingly important for transparency, competitiveness, and alignment with the UN Sustainable Development Goals. In this context, green innovation emerges as a potential pathway to transform ESG commitments into tangible business value. Method: This study employed a regression model using the SPSS PROCESS macro (Model 4) with bootstrapping (95% CI) to analyze direct and indirect effects of ESG, green innovation, and financial performance in European energy, utilities, materials, and industrial sectors. Findings: The results …

Esg Reporting And Market Capitalization In Asia: The Role Of National Cultural Values, Anggelia Syahputri, Mirza Khayhan Asyitiyani, Risda Nurmayanti

Jurnal Akuntansi dan Keuangan Indonesia

Background: The discussion around sustainability issues is advancing in Asia, highlighting ESG disclosure as a critical competitive advantage for companies. Corporate ESG disclosure can influence investment decisions as investors seek information on companies' ESG practices. Method: This study examines the impact of ESG reporting on market capitalization and the moderating role of Hofstede's cultural values. The analysis is based on panel data from listed firms in nine Asian countries (Indonesia, Malaysia, Thailand, the Philippines, Singapore, India, Taiwan, Japan, and China) over the period 2018–2023. Findings: The findings show a positive relationship between cumulative ESG scores and market capitalization in both …

Alternative Vat Policies For Sustainable Menstrual Products In Indonesia, Saraswati Nirmala Suci, Hanik Susilawati Muamarah

Jurnal Akuntansi dan Keuangan Indonesia

Background: Sustainable menstrual products currently face the same VAT rate as conventional products, making them less affordable and slowing their adoption. This price gap drives consumers toward cheaper disposable alternatives, increasing non-recyclable waste and environmental risks. Addressing this imbalance is essential to advancing sustainability and menstrual equity. Method: This study conducted in-depth interviews with officials from the Directorate General of Taxes, the Fiscal Policy Agency, the Ministry of Environment and Forestry, academicians, and a sustainable product manufacturer. Data were analyzed using the Regulatory Impact Assessment (RIA) framework to evaluate four VAT policy alternatives: normal VAT, VAT exemption, non-collected VAT, and …

Biomarker And Age At Onset Endophenotypes Offer New Insights Into The Genetic Etiology Of Alzheimer’S Disease, Joseph Bradley

Arts & Sciences Graduate Student Theses and Dissertations

Introduction: Alzheimer’s Disease (AD) remains among the top 10 causes of death in the United States and is projected to affect nearly 14 million people by 2050. To this point, studies of Alzheimer’s genetics and endophenotypes have yielded a bounty of results that culminated in the first disease-modifying drugs, lecanemab and donanemab, in 2022. Most of the genetic studies for Alzheimer’s disease to date have been focused on late-onset AD or Autosomal dominant AD, leaving a critical need for studying sporadic early-onset AD (EOAD; ~10% of cases). Furthermore, the demand for clinical portability has created a need for high-sensitivity proteomic …

Benefits And Challenges Of Documentary Video For Social Learning: A Systematic Review, Andhika Yudha Pratama, Evania Yafie, Daya Negri Wijaya, Heni Masruroh

Journal of Innovation and Teacher Professionalism

Social learning refers to the process of observation through which individuals acquire and refine behaviors. It plays a crucial role in helping individuals differentiate between appropriate and inappropriate actions. Documentary videos can enhance this learning process by providing observational opportunities through the figures depicted in the videos. This article reviews studies on the advantages and challenges of using documentary videos in social learning. A systematic literature review method was employed, incorporating 23 studies—18 focusing on the benefits and 5 addressing the challenges of documentary videos. The studies were collected from Google Scholar, Taylor & Francis, Elsevier, Wiley, and SAGE Journals. …

Molecular Detection Of Listeria Species From Diarrheic Human In Iraq, Sabah Adel Mahmood, Nagham Mohammed Al-Gburi

Muthanna Medical Journal

Background: Diarrhea is a serious global public health issue, especially in developing nations. The two categories most susceptible to infection are the elderly and children. L. monocytogenes is recognized as a causal agent of diarrhoea among the several bacterial pathogens linked to gastrointestinal illnesses. The current work was designed to investigate Listeria spp in diarrheal human stool samples in Baghdad City, Iraq.

Methods: One hundred stool samples from diarrheal patients were collected from private clinics in rural and urban areas. Listeria spp was identified by conventional culture methods using selective media, biochemical and CAMP tests, the Vitek 2compact system, and …

Prevalence And Etiological Bacterial Nosocomial Infections In Pediatric Patients In Al-Diwaniyah Hospitals, Shaimaa Shakir Jawad, Yahya Falih Mohamed

Muthanna Medical Journal

Background: Nosocomial infection is one significant factor influencing a patient's outcome. Patient safety is at risk since they are the most frequent adverse occurrences in healthcare. They have a major impact on patients, their families, and healthcare systems regarding mortality, morbidity, and economic hardship. Aims: Screening the prevalence and etiological bacteria of nosocomial infections in pediatric patients in Al-Diwaniyah hospitals, Iraq. Methods: In this cross-sectional descriptive study, a total of 105 different clinical samples were collected from hospitalized pediatric patients in Al-Diwaniyah hospitals who aged from 10 days till the age of 14 years old during August 2025 to December …

Green Tea (Camellia Sinensis) And Cognitive Health: A Systematic Review Of Mechanisms, Clinical Evidence, And Neuroprotective Potential, Elisha Rosalyn Rosdah, Eka Febri Zulissetiana, Irfannuddin Irfannuddin

Folia Medica Indonesiana

Cognitive decline, often a precursor to neurodegenerative diseases like Alzheimer's, is a growing global health challenge. Green tea (Camellia sinensis), rich in bioactive compounds such as epigallocatechin-3-gallate (EGCG) and L-theanine, has demonstrated promise in supporting cognitive function and reducing cognitive decline. This systematic review evaluated the recent evidence on the effects of green tea on cognition and its underlying mechanisms. The authors conducted a comprehensive search of PubMed, SpringerLink, and ScienceDirect for open-access articles published between January 2020 and April 2025. This systematic review included studies examining the impact of green tea on cognitive function in humans and …

Antioxidant Activity Comparison Of Peperomia Pellucida And Piper Crocatum Leaf Extracts Using The Dpph Method (In Vitro), Dyah Ayu Kinasih, Arifa Mustika, Marijam Purwanta, Nurmawati Fatimah, Nozlena Binti Abdul Samad

Folia Medica Indonesiana

Peperomia pellucida (L.) Kunth and Piper crocatum Ruiz and Pav are members of the Piperaceae family, which contains many active phytochemical compounds, one of which functions as an antioxidant. Antioxidants in the human body play a crucial role in protecting cells and tissues from damage by free radicals. Free radicals are unstable molecules that can damage cells through a process called oxidation. The purpose of this study was to compare the levels of antioxidant activity in the two plants using the 1,1-diphenyl-2-picrylhydrazyl (DPPH) method. The processing was conducted from simplicial to extraction, using the maceration method with 70% ethanol solvent. …

Correlation Of F2-Isoprostane With Interleukin-6 And Interleukin-10 In Transfusion-Dependent Thalassemia Patients : A Cross-Sectional Study, Nurul Muhlisa, Yetti Hernaningsih, Puspa Wardhani, Mia Ratwita Andarsini, Zulfikar Ali Hasan

Folia Medica Indonesiana

Transfusion-dependent thalassemia (TDT)[-7pc]AU: Please Provide authors affiliations. is a condition in which patients require lifelong regular blood transfusions. However, regular blood transfusions carry a major risk of iron overload, which accumulates in the body and can trigger oxidative stress and chronic inflammation. Oxidative stress is characterized by an increase in reactive oxygen species (ROS), which can be assessed through the measurement of F2-Isoprostanes (8-iso-PGF2α). Excessive ROS affects cytokine production by inducing an inflammatory response, such as IL-6 and IL-10. This study aims to analyze the correlation between F2-isoprostane with Interleukin-6 and Interleukin-10 levels in TDT patients. This research …

Transforming Vision: Long Term Follow-Up Of Rigid Gas Permeable Contact Lens Therapy In Anisometropic Amblyopia, Christina Aritonang, Sarah Fauzia, Zafirah Mutiani, Hafiza Izyani Yaacob, Muhammad Irfan Kamaruddin

Folia Medica Indonesiana

Amblyopia is defined as a unilateral or bilateral reduction in visual acuity resulting from abnormal binocular interaction during the critical period of visual development. Amblyopia is classified into three etiologies: strabismus, refractive amblyopia, and other vision obstructions. Amblyopia refractive is the most common form resulting from the integration of the retina. Amblyopia is most prevalent in childhood, with a global prevalence of 1.44% mainly in Asia, the United States, and Europe. Early detection and treatment are crucial to ensure proper visual development and prevent long-term vision problems. RGP contact lenses are an alternative treatment method that creates a more effective …

Analysis Of Penis Size Differences In Patients With Severe Erectile Dysfunction Non-Responsive Pde5i With Mesenchymal Stem Cell Secretome From Umbilical Cord, Kristophorus Jonathan Wibowo, Reny I’Tishom, Mohammad Ayodhia Soebadi, Muhammad Hidayat Surya Atmaja, Supardi Supardi, Ria Margiana, Fatkhurrohmah Leo Amalia

Folia Medica Indonesiana

The ineffectiveness of PDE5i[-10pc]AU: Please provide the affiliation of all authors. therapy is indicated by the patient’s unresponsiveness to oral medication, evidenced by insufficient erection after four attempts with the dosage recommended by the manufacturer. Consequently, the application of regenerative therapy may be seen as an effort to stimulate a response or improvement in erectile function, especially in individuals with erectile dysfunction who exhibit no significant progress after utilizing PDE5 inhibitors. Regenerative therapy seeks to repair damaged erectile tissue, with the objective of enhancing erectile function and rehabilitating tissue impacted by existing comorbidities. The secretome denotes the aggregate of chemical …

Patterns Of Rifampicin And Isoniazid Resistance In Pulmonary Rr/Mdr-Tb With Or Without T2dm, May Ira Sopha, Laksmi Wulandari, Musofa Rusli, Dominicus Husada, Susantina Prodjosoewojo

Folia Medica Indonesiana

Tuberculosis (TB) causes approximately[-12pc]AU: Please provide ORCID ID for all authors. 1.6 million deaths each year. The incidence of drug-resistant TB has continued to rise, primarily due to multidrug-resistant tuberculosis (MDR-TB). Drug-resistant TB remains a primary concern in various parts of the world, especially in Eastern Europe, Russia, Asia, and sub-Saharan Africa. This study aimed to analyze the correlation between first-line anti-tuberculosis drug resistance and the presence or absence of T2DM comorbidity in patients with pulmonary RR/MDR TB. This research employed a cross-sectional design, which used secondary data from 2023, obtained from medical records, the Tuberculosis Information System (SITB), and …

Preliminary Laboratory Evaluation Of Rapid Diagnostic Test Prototype To Detect Hbsag In Whole Blood And Serum, Ema Qurnianingsih, Citrawati Dyah Kencono Wungu, Mochammad Amin, Dewi Setyawati, Yanna Debby Restifanny Yasan, Lina Lukitasari, Maria Inge Lusida, Soetjipto Soetjipto

Folia Medica Indonesiana

Chronic hepatitis B virus (HBV) remains a major global health issue,[-10pc]AU: Please provide ORCID ID for all authors.[-7pc]AU: Please provide affiliation’s for all authors. with over 250 million people affected worldwide. In Indonesia, HBV prevalence has declined from high to moderate endemicity, but challenges persist due to regional disparities, risk of mother-to-child transmission, and the predominance of B3 and C1 sub-genotype. Despite available preventive measures and diagnostic tools, approximately 90% of cases remain undiagnosed, particularly in low-resource settings, indicating the need for improved screening and control strategies. Therefore, this study aims to conduct preliminary performance tests of KODC hepatitis B …

Global Analysis Of Pyroptosis On Autoimmune Diseases: Bibliometric Study, Astri Dewayani, Kartika Afrida Fauzia

Folia Medica Indonesiana

Pyroptosis has gained increasing attention due to its role in immune responses and its implication in the pathogenesis of autoimmune diseases. Unlike apoptosis, pyroptosis is characterized by gasdermin D-mediated membrane pore formation and the release of pro-inflammatory cytokines. This bibliometric analysis aims to systematically explore trends, influential contributions, and emerging themes in the study of pyroptosis within the context of autoimmune diseases. Literature was retrieved from the Web of Science Core Collection covering publications from 2015–2024. A total of 1,271 English-language articles and reviews were analyzed using Biblioshiny and VOSviewer for performance metrics and network visualizations. Hotpots trend identification is …

Re: Approval Letter For The Butte Priority Soils Operable Unit (Bpsou) Revised Draft Final 2022 Insufficiently Reclaimed Sites Sampling: Bres No. 32 – Corra 2 Dump Site Evaluation Summary Report (Dated October 24, 2025), Molly Roby

Silver Bow Creek/Butte Area Superfund Site

No abstract provided.

The Effect Of Neoadjuvant Chemoradiotherapy On Perioperative Outcomes In Rectal Cancer Patients Following Stoma Reversal-A Retrospective Cohort Analysis, Mary Junak, Rosemarie Turk, Mohammad Afaque Alam, Eli Thompson, David Schaub, Joseph Gunderson, Anesu S. Masango, Srikar Kollipara, Andrea Moreno, Daniom Tecle, Valentine N. Nfonsam

School of Medicine Faculty Publications

BACKGROUND: Anastomotic leak after reversal of an ostomy is a significant complication in rectal cancer patients. The effects of neoadjuvant chemoradiotherapy (NCRT) on outcomes following stoma reversal are not well established. The aim of our study was to evaluate the effect of NCRT on outcomes in rectal cancer patients following stoma reversal. METHODS: We performed a [2005-2012] retrospective cohort analysis of the American College of Surgeons-National Surgical Quality Improvement Program (ACS-NSQIP), including adult (≥18 years) rectal cancer patients who had elective stoma reversal. Patients were stratified into those who received NCRT and those who did not. Primary outcomes were anastomotic …

Ethnic Diversity In Uk Bioscience: Structural Biases And Recommendations For Action, Yusra Siddiqui, Prachi Stafford, Emmanuel Adukwu, Nicholas Freestone, Tina Lovleen Joshi, Emma Yhnell, Katharine Hubbard

Peninsula Dental School

Scientific research is more innovative and impactful when scientists are drawn from diverse backgrounds. However, the scientific community does not reflect the demographics of wider society. Global Majority communities remain underrepresented within science, particularly within senior leadership roles. Here we explore ethnic diversity within UK academic biosciences, using publicly available staff and student demographic data from the UK Higher Education Statistics Authority. We use the Simpson index as a quantitative measure of diversity within the biosciences and construct linear mixed effect models to identify significant predictors of both student and staff ethnic diversity. For staff, there were significant negative effects …

Us Drug Policy Does Not Align With Experts’ Rankings Of Drug Harms: A Multi-Criteria Decision Analysis, Michael Broman, Alan K Davis, Stacey Armstrong, Adam Levin, Kaltum Ahmed, Gustavo A Angarita, Brooke J Arterberry, Cecilia Bergeria, Mitch Earleywine, Kathryn S Gex, Tom Gregoire, Jamey J Lister, David S Mathai, Nicky J Mehtani, Nathan Menke, Charles D Nichols, Hillary Shaub, Alayna P Tackett, Brandon Weiss, Nefize Yalin, Lawrence D Phillips

Faculty, Staff and Students Publications

Background: United States drug policy is primarily based on the Controlled Substances Act of 1970 and largely contradicts scientific evidence about how to mitigate drugs’ harms. Expert consensus on drug harms could inform policy that improves the health of people who use drugs while reducing negative societal impacts of drug use. Therefore, this study adapted and extended the relevant 2010 United Kingdom multi-criteria decision analysis, rating drug harms by criteria comprising health and social impacts to people who use drugs and their families, communities, and society.

Methods: Seventeen experts on drug use in the US, including three with lived experience …

Nutrition Support Adequacy In Children With Biliary Atresia After Liver Transplant, Nicole Knebusch, Manpreet Virk, Moreshwar S Desai, Marwa Mansour, Stacey Beer, Brittany Pearo, Kelby Fuller, Krupa Mysore, John Goss, Thomas Fogarty, Fernando Stein, Jorge A Coss-Bu

Faculty, Staff and Students Publications

No abstract provided.

An Integrated Platform For Concurrent Structural And Single-Nucleotide Variants Improves Copy-Number Detection And Reveals Pathogenic Alleles In Undiagnosed Mendelian Families, Haowei Du, Ming Yin Lun, Lidiia Gagarina, Jesse D Bengtsson, Christopher M Grochowski, Michele G Mehaffey, James Paul Hwang, Shalini N Jhangiani, Sravya V Bhamidipati, Donna M Muzny, M Cecilia Poli, Sebastian Ochoa, Ivan K Chinn, Anna Lindstrand, Jennifer E Posey, Richard A Gibbs, Pengfei Liu, James R Lupski, Claudia M B Carvalho

Faculty, Staff and Students Publications

Background: Copy number variation (CNV) is a class of genomic structural variation (SV) that contributes to genomic disorders and can significantly impact health. Short-read genome sequencing (sr-GS) enables genome-wide SV calling which has been shown to increase diagnosis in unsolved rare disease families. The growing number of large sequencing cohort projects with sr-GS data available requires open free analytical tools that provide visualization of CNV and SV integrated calls associated with gene annotation, proband-parent trio analysis to enable prioritization of de novo variants, B-allele frequency (BAF) plots to support CNV calls, parent of origin assessment and mosaicism detection.

Methods: To …