Bruce Budowle’s research while affiliated with Radford University and other places

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Publications (802)


Tissue type identification pipeline
The cell clustering and marker gene expressions
The UMAPs plot the cell type clusters of Blood (a), Skin (d), Urine (e), Saliva (h), and Semen (i). Each dot represents a cell, and cell types are distinguished by colors. The heatmaps display the marker genes (p-value < 10−100) of Blood (b), Skin (c), Urine (f), Saliva (g), and Semen (j). The Viridis color map denotes the normalized transcription activities of marker genes. Cell types are annotated by the top color bars.
Cell type classification performance improvement by quality control of eliminating noisy cells
The ARI (a), Mean F1 (b), and NMI (c) scores of 10-fold cross-validation by the scTissueID and baseline methods. The UMAP plots of Blood (d), Skin (e), Sperm (f), Urine (g), Saliva (h) samples, and All tissue types (i) are color-coded by the maximum probabilities.
Human Cell Atlas tissue type classification performance improvement by quality control of eliminating noisy cells
Each dot represents one tissue. The accuracy (a), training time (b), validation time (c), and memory cost (d) of 10-fold cross-validation by the scTissueID and baseline methods. The dot plots compare the performance between raw cells (y-axis) as reference and high quality cells (x-axis) as reference. The dots below the diagonal lines are shown as the improved performance. The scTissueID classifies all tissue types, while the baselines with training time over 5⋅10⁵ are not shown.
Human Cell Atlas cell type classification performance with all cell types
Each dot represents one cell type. All methods were evaluated with or without quality control on cells, namely, Raw and QC (Quality Control), respectively. The accuracy (a), precision (b), recall (c), and f1 (d) of 10-fold cross-validation by scTissueID and baseline methods. Each dot denotes the performance of one cell type, while all dots with the same color denote cell types of one tissue. The dot plots compare the performance between raw cells (y-axis) as reference and high quality cells (x-axis) as reference. The dots below the diagonal lines are shown as the improved performance. scTissueID classifies all tissue types, while the baselines with training time over 5⋅10⁵ are not shown.

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High resolution tissue and cell type identification via single cell transcriptomic profiling
  • Article
  • Full-text available

March 2025

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18 Reads

Muyi Liu

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Hongmin Li

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Tissue identification can be instrumental in reconstructing a crime scene but remains a challenging task in forensic investigations. Conventionally, identifying the presence of certain tissue from tissue mixture by predefined cell type markers in bulk fashion is challenging due to limitations in sensitivity and accuracy. In contrast, single-cell RNA sequencing (scRNA-Seq) is a promising technology that has the potential to enhance or even revolutionize tissue and cell type identification. In this study, we developed a high sensitive general purpose single cell annotation pipeline, scTissueID, to accurately evaluate the single cell profile quality and precisely determine the cell and tissue types based on scRNA profiles. By incorporating a crucial and unique reference cell quality differentiation phase of targeting only high confident cells as reference, scTissueID achieved better and consistent performance in determining cell and tissue types compared to 8 state-of-art single cell annotation pipelines and 6 widely adopted machine learning algorithms, as demonstrated through a large-scale and comprehensive comparison study using both forensic-relevant and Human Cell Atlas (HCA) data. We highlighted the significance of cell quality differentiation, a previously undervalued factor. Thus, this study offers a tool capable of accurately and efficiently identifying cell and tissue types, with broad applicability to forensic investigations and other biomedical research endeavors.

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FAA U.S. assessment protocol for PTSD (8).
Assessment policy of post-traumatic stress disorder in aviation and its practical application using turbulence-triggered trauma as an example

The U.S. Federal Aviation Administration (FAA) recently provided detailed instructions on how Aviation Medical Examiners (AMEs) should assess and evaluate pilots for post-traumatic stress disorder (PTSD). The European, Australian and International Civil Aviation Organization guidelines for the assessment of PTSD in aviation are general guidelines and do not address the unique and specific circumstances of a flight crew per se. The starting point of the U.S. FAA’s guidance is an already-established clinical PTSD diagnosis since it is known that PTSD compromises aviation safety and has been related to fatal aviation accidents. According to the FAA’s guidance, a PTSD assessment is undertaken based on whether the condition is symptomatic and medicated, or whether more than 2 years have elapsed since showing symptoms and receiving medication. The International Classification of Diseases (ICD) criteria for stress disorders have changed between versions ICD-10 and the soon-to-be-released ICD-11. The new ICD-11 criteria are discussed in this article in the context of aviation health. Additionally, PTSD, potentially caused by an incident of turbulence, is discussed in the context of aviation mental health. There are currently no published studies on turbulence-caused mental trauma. We have identified in this article potential factors which are related to pilots’ and cabin crew’s stressors in incidents of severe and extreme turbulence. Three recommendations are provided: (1) harmonize assessment practices of PTSD internationally; (2) healthcare professionals taking care of traumatized flight crew should have a follow-up guide that takes specific and local conditions into account, and ensures the identification of patients who require follow-up treatment as early as possible; and (3) aviation health care professionals should consider ICD-11 diagnostic criteria as the information may be more useful in the assessment and diagnosis of aviation-related trauma.


The pilot’s (2016 accident) heart attacks (acute myocardial infarctions) and aeromedical examinations, shown on a timescale [11] (figure: Safety Investigation Authority, Finland).
Timeline showing diseases, medications, and development of increased incapacitation risk, based on the results of aeromedical examinations related to the pilot of the 2021 accident [12] (figure: Safety Investigation Authority, Finland).
Aeromedical assessment and challenges in various scenarios [12] (figure: Safety Investigation Authority, Finland). This figure is related to Figure 2. In this accident, the elderly pilot had multiple diseases.
Sudden Incapacitation Due to Cardiovascular Disease in Elderly Pilots: Lessons Learned from Two Fatal Accidents of Elderly General Aviation Pilots in Finland

February 2025

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36 Reads

Investigations of aviation accidents are based on provisions of the International Civil Aviation Organization (ICAO) Annex 13 agreement. A safety recommendation may be addressed to international aviation organizations, such as the European Aviation Safety Agency (EASA) and the ICAO, by the Accident Investigation Agency of any country, following a safety investigation into an occurrence. This process also promotes learning from smaller aviation accidents internationally. This article highlights two relatively small aviation accidents in Finland from 2016 and 2021, respectively, both of which fall under general aviation and have led to significant aeromedical safety recommendations for the EASA and the ICAO. In the 2016 accident, a general aviation pilot, who had previously suffered heart attacks, suffered another heart attack and died shortly after landing. This incident led to a recommendation issued to EASA calling for additional training of aeromedical officers in aeromedical risk assessment on pre-existing health conditions. The 2021 accident involved an elderly general aviation pilot who became incapacitated due to health issues. The recommendations resulting from this investigation were brought further to the ICAO and EASA in order for them to emphasize the importance of the age of a pilot in current aviation health assessment guidelines.


Analytical validation of the IBD segment-based tool KinSNP ® for human identification applications

January 2025

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2 Reads

KinSNP® v1.0, a software tool for human identification, has been widely used to measure IBD segment sharing between individuals using dense SNP data. Herein, the tool was validated using simulated pedigree data (up to 9th degree relationships) from five diverse populations from the 1000 Genomes Project. Performance was further tested under conditions of simulated genotyping errors and allele or locus dropout. KinSNP data were benchmarked with IBIS, Ped-sim, and known ranges of centimorgan sharing. The calculated values from KinSNP aligned closely with IBIS and Ped-sim benchmarks, and accuracy was maintained with up to 75% simulated missing data. However, even slight increases in simulated sequence error rates negatively impacted performance. This study supports that KinSNP is a reliable solution for IBD-based analyses in forensic contexts.





4th DNA Forensic Symposium: Challenges and future directions in Africa

September 2024

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150 Reads

Forensic Science International Synergy

The 4th Forensic DNA Symposium in Africa underscored the critical role of regional collaboration in advancing forensic sciences, with a particular focus on forensic DNA examinations, databases, and humanitarian initiatives. The symposium aimed to assess the current forensic DNA capabilities across African countries and develop strategies to expand and better utilize DNA platforms. Key findings from the symposium highlight the necessity for enhanced cooperation among African nations to build robust forensic DNA databases and improve data-sharing mechanisms. The symposium also identified significant gaps in current capabilities and the need to develop legal frameworks, infrastructure, and expertise to support forensic initiatives. Moving forward, these findings suggest a strategic focus on capacity building, establishing standardized procedures, and implementing sustainable forensic practices across the continent. Champions were nominated by attending delegates to lead their respective countries in the implementation of these strategies, marking a critical step towards strengthening forensic science in Africa and addressing the pressing challenges related to crime and humanitarian efforts.



Statins for the prevention of cardiovascular events associated with avian influenza: the COVID-19 pandemic as a reference

There is growing concern that the severe respiratory disease in birds (avian influenza or ‘bird flu’) caused by the H5N1 influenza virus, might potentially spread more widely to humans and cause a pandemic. Here we discuss clinical issues related to human infections by the highly pathogenic H5N1 subtype of the avian influenza A virus and make a clinical comparison with recent information obtained from studies of SARS-CoV-2 infection. Firstly, we consider the potential increase in cardiovascular events in humans infected with the H5N1 virus. Like SARS-CoV-2 infection, H5N1 infection may result in endothelial dysfunction and the associated procoagulant and prothrombotic state, and via this mechanism, the infection can potentially increase cardiovascular morbidity, especially in vulnerable individuals with pre-existing cardiovascular disease. Secondly, we discuss the potential beneficial role of statin use, both in the prophylaxis and the treatment of individuals with influenza A(H5N1), as was found favorable for the treatment of COVID-19 caused by SARS-CoV-2 infection.


Citations (66)


... Ancestry informative markers (AIMs) are DNA markers with different allele frequency spectra that can indicate the likely biogeographic origin of an individual when ancestry is unknown or undisclosed (Rosenberg et al., 2003;Phillips et al., 2007). In forensic science, AIMs are widely used to trace the origin of unknown biological samples found at crime scenes and to identify missing persons or historical remains (Cai et al., 2024;Mandape et al., 2024). Forensic biological materials often experience harsh environmental conditions, limiting their quantity and quality. ...

Reference:

Fine-Scale Biogeographical Ancestry Inference in Southeast and East Asians via High-Efficiency Markers and Machine Learning Approaches
Dense SNP-Based Analyses Complement Forensic Anthropology Biogeographical Ancestry Assessments
  • Citing Article
  • September 2024

Forensic Science International Genetics

... Because ADHD is a neurodevelopmental disorder associated with deficits across neurocognition, this disorder can be individually assessed. 12 To this end, the FAA has trained Human Intervention Moti vational Study neuropsychologists, who know the aviation environment and the assessment protocol, to carry out assessment in the most demanding ADHD cases. ...

European and US Aeromedical Authority Guidance for Neurocognitive Evaluation of Airline Pilots With Mental Disorders

... Also, human skeletal remains from mass graves of the Spanish Civil War (1936)(1937)(1938)(1939) have been exhumed and identified [9][10][11]. Similar efforts have led to the genetic identification of skeletal remains from World War II mass graves in Slovenia, Croatia, Poland, Bosnia and Herzegovina, and France [12][13][14][15][16]. The universal right to post-mortem identification is enshrined in domestic and international law [17,18]. ...

Identification of skeletal remains in Croatia and Bosnia and Herzegovina, including the homeland war - a 30-year review
  • Citing Article
  • June 2024

Croatian Medical Journal

... For example, by inferring an unknown person's biological sex, eye colour, hair colour and recent ancestry, physical traits such as pigmentation can be incorporated into a craniofacial reconstruction of unidentified human remains, narrowing the pool of potential candidates [4][5][6] . There are several forensic DNA panels available that assess multiple classes of SNPs, allowing for these inferences to be generated in a single workflow [7][8][9][10][11] . ...

Developmental Validation of the ForenSeq® Kintelligence kit, MiSeq FGx® Sequencing System and ForenSeq Universal Analysis Software
  • Citing Article
  • April 2024

Forensic Science International Genetics

... It later turned out that VNTR markers do not perform optimally in forensic PCR applications, mainly due to their long repeat sizes and frequent degradation of DNA in forensic samples (33). Consequently, forensic DNA-profiling using short tetra-or trimeric tandem repeat markers (STRs; microsatellites) with multiplex PCR became the method of choice for forensic PCR analysis and identification of individuals (34). ...

Short tandem repeats — how microsatellites became the currency of forensic genetics
  • Citing Article
  • March 2024

Nature Reviews Genetics

... The International Society for Forensic Genetics (ISFG) recently published helpful recommendations for a consensed SB allele nomenclature [32], which needs to be applied in worldwide population studies. Therefore, in this study, we report both LB and SB allele frequencies for the 27 aSTRs, 7 X-STRs, 24 Y-STRs, and 94 iiSNPs included in the ForenSeq DNA Signature Prep Kit (Verogen) in a population sample of the Jalisco state (West, Mexico) considering the ISFG recommendations. ...

Recommendations of the DNA Commission of the International Society for Forensic Genetics (ISFG) on Short Tandem Repeat sequence nomenclature

Forensic Science International Genetics

... The genetic distances (Rst) and p-values were calculated and graphically represented on an MDS plot employing the tools available in YHRD (https://yhrd.org/, accessed on 1 January 2025), including the following populations as references: Puebla (Mexico) [unpublished data], Costa Rica [16], Ecuador [17], Peru [18], Spain [19], and African Americans, European Americans, and Native Americans from the U.S. [20]. Haplogroup prediction was performed using the NevGen Y-DNA Haplogroup Predictor [21], which estimates the probability of the haplogroup affiliation for a given Y-STR haplotype. ...

Analysis of 27 Y-chromosomal STR loci of the Mestizo Peruvian population

Egyptian Journal of Forensic Sciences

... effects on affected populations' health, such as compromising respiratory health including asthma, cardiovascular disease, and toxic injury. 18 Among the cardiovascular and respiratory threats connected to wildfire smoke exposure and specific at-risk populations, further investigation has prompted a review of maternal health, and pregnancy studies have also proven there are adverse neonatal outcomes when prenatal exposure occurs. Particulate matter of 2.5 or less micrometers in diameter (PM2.5) is especially dangerous due to the fine nature of the pollutant that is easily inhaled, can enter the bloodstream, and lead to systemic adverse health outcomes. ...

Wildfire smoke exposure and cardiovascular disease—should statins be recommended to prevent cardiovascular events?

... indeed provide an opportunity to implement an integrated approach to solving organisational, managerial, regulatory, personnel and financial issues, which will increase the efficiency and effectiveness of forensic activities. Works by A. Biju et al. (2021), B. Kumar et al. (2022) and B. Budowle (2023) are devoted to the problems of organising forensic activities in the process of criminal prosecution and improving the procedure for obtaining evidence in criminal proceedings. ...

Unraveling Crime Scenes Strand by Strand: The Forensic Odyssey of Bruce Budowle

... PCR amplicons were converted to NGS libraries using the PacBio HiFi Library Preparation kit (PacBio), followed by PacBio Sequel II/IIe SMRT Cell 8M sequencing (Pacific Biosciences, Menlo Park, CA, USA). TGS reads were aligned to the Hg19 genome using BWA, followed by genotyping using TRcaller [56,57]. ...

TRcaller: a novel tool for precise and ultrafast tandem repeat variant genotyping in massively parallel sequencing reads