Statistical Genetics & Bioinformatics

Recent Works

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Sorted by most recent date added to the index first, which may not be the same as publication date order.

2025 article

Aberrant Gait Biomechanics Linked to Cartilage Changes After ACL Reconstruction in Those With High Body Mass Index

Lee, H., Buck, A. N., Armitano-Lago, C., Creighton, R. A., Kamath, G. M., Spang, J. T., … Pietrosimone, B. (2025, May 19). JOURNAL OF ORTHOPAEDIC RESEARCH, Vol. 5.

co-author countries: Korea (Republic of) 🇰🇷
author keywords: interlimb ratio; osteoarthritis; proteoglycan density; sustained loading
topics (OpenAlex): Knee injuries and reconstruction techniques; Lower Extremity Biomechanics and Pathologies; Total Knee Arthroplasty Outcomes
Sources: Web Of Science, NC State University Libraries
Added: May 27, 2025

2023 journal article

Perimenopausal Effects of Estradiol on Anhedonia and Psychosis Study (PEEPs): study protocol for a neural and molecular mechanistic clinical trial

Trials, 24(1).

MeSH headings : Female; Humans; Estradiol / therapeutic use; Anhedonia; Dopamine; Perimenopause; Psychotic Disorders / diagnosis; Psychotic Disorders / drug therapy; Randomized Controlled Trials as Topic
topics (OpenAlex): Menopause: Health Impacts and Treatments; Stress Responses and Cortisol; Estrogen and related hormone effects
Source: ORCID
Added: March 7, 2025

2023 article

Striatal TSPO binding is associated with anhedonia severity and early life stress exposure in anhedonic patients with major depressive disorder

Phillips, R. D., Cummings, K., Dharanikota, A., Eisenlohr-Moul, T., Muscatell, K. A., Dichter, G. S., … Walsh, E. C. (2023, November). BRAIN BEHAVIOR AND IMMUNITY, Vol. 114, pp. 22–22.

topics (OpenAlex): Functional Brain Connectivity Studies; Transcranial Magnetic Stimulation Studies; Spaceflight effects on biology
Sources: Web Of Science, NC State University Libraries
Added: September 23, 2024

2023 journal article

Interlocus Gene Conversion, Natural Selection, and Paralog Homogenization

MOLECULAR BIOLOGY AND EVOLUTION, 40(9).

co-author countries: Japan 🇯🇵
author keywords: interlocus gene conversion; paralog homogenization; teleost genome duplication
MeSH headings : Gene Conversion; Saccharomyces cerevisiae; Amino Acid Sequence; Genes, Duplicate; Magnoliopsida; Selection, Genetic
topics (OpenAlex): Genomics and Phylogenetic Studies; RNA and protein synthesis mechanisms; Fungal and yeast genetics research
Sources: Web Of Science, NC State University Libraries
Added: April 1, 2024

2023 journal article

Striatal dopamine in anhedonia: A simultaneous [11C]raclopride positron emission tomography and functional magnetic resonance imaging investigation

PSYCHIATRY RESEARCH-NEUROIMAGING, 333.

author keywords: Anhedonia; Dopamine; PET-MR; Reward; Mesolimbic; Self-reported stress
MeSH headings : Humans; Raclopride; Dopamine / metabolism; Anhedonia; Depressive Disorder, Major; Positron-Emission Tomography; Magnetic Resonance Imaging
topics (OpenAlex): Neurological and metabolic disorders; Advanced MRI Techniques and Applications; Genetic Neurodegenerative Diseases
TL;DR: Analysis of linkages between striatal DA, reward circuitry functioning, anhedonia, and, in an exploratory fashion, self-reported stress, in a transdiagnostic anhedonic sample provides evidence for reduced striatalDA functioning during reward processing and blunted mesocorticolimbic network functional connectivity. (via Semantic Scholar)
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UN Sustainable Development Goal Categories
Sources: Web Of Science, NC State University Libraries
Added: February 12, 2024

2023 article

Scalable Bayesian Divergence Time Estimation With Ratio Transformations

Ji, X., Fisher, A. A., Su, S., Thorne, J. L., Potter, B., Lemey, P., … Suchard, M. A. (2023, July 17). SYSTEMATIC BIOLOGY.

co-author countries: Belgium 🇧🇪 China 🇨🇳
author keywords: Bayesian inference; divergence time estimation; effective sample size; Hamiltonian Monte Carlo; pathogens; phylogenetics; ratio transformation
MeSH headings : Phylogeny; Bayes Theorem; Algorithms; Time Factors; Monte Carlo Method
topics (OpenAlex): Genomics and Phylogenetic Studies; Yersinia bacterium, plague, ectoparasites research; Genetic diversity and population structure
TL;DR: A ratio transformation is explored that maps the original N-1 internal node heights into a space of one height parameter and N-2 ratio parameters and improves inference efficiency by at least 5-fold and makes it computationally feasible to incorporate mixed-effects molecular clock models for the Ebola virus example. (via Semantic Scholar)
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UN Sustainable Development Goal Categories
14. Life Below Water (OpenAlex)
15. Life on Land (Web of Science)
Source: Web Of Science
Added: September 5, 2023

2023 article

Delayed cartilage oligomeric matrix protein response to loading is associated with femoral cartilage composition post-ACLR

Lisee, C., Evans-Pickett, A., Davis-Wilson, H., Munsch, A. E., Longobardi, L., Schwartz, T. A., … Pietrosimone, B. (2023, June 16). EUROPEAN JOURNAL OF APPLIED PHYSIOLOGY, Vol. 6.

author keywords: Biomarkers; Serum; Cartilage; COMP; MRI
topics (OpenAlex): Knee injuries and reconstruction techniques; Total Knee Arthroplasty Outcomes; Lower Extremity Biomechanics and Pathologies
TL;DR: Greater delayed sCOMP response to loading, a biomarker of cartilage breakdown, is associated with worse lateral femoral cartilage composition in the ACLR limb compared to the uninjured limb. (via Semantic Scholar)
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Sources: Web Of Science, NC State University Libraries
Added: June 26, 2023

2022 article

Striatal Dopamine Binding in Anhedonia: A Simultaneous [<sup>11</sup>C]Raclopride Positron Emission Tomography and Functional Magnetic Resonance Imaging Investigation

MedRxiv.

topics (OpenAlex): Functional Brain Connectivity Studies; Treatment of Major Depression; Transcranial Magnetic Stimulation Studies
Source: ORCID
Added: March 7, 2025

2022 journal article

Correlations between alignment gaps and nucleotide substitution or amino acid replacement

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 119(34).

co-author countries: Korea (Republic of) 🇰🇷
MeSH headings : Algorithms; Amino Acid Substitution; Amino Acids / genetics; Nucleotides / genetics; Proteins / genetics; Sequence Alignment; Software
topics (OpenAlex): Genomics and Phylogenetic Studies; RNA and protein synthesis mechanisms; Evolution and Genetic Dynamics
TL;DR: A test of the null hypothesis that nucleotide substitution or amino acid replacement processes are independent of gap locations within sequence alignments is introduced, demonstrating the need for modifying the conventional approach of basing evolutionary inferences upon single optimal alignments. (via Semantic Scholar)
Source: Web Of Science
Added: July 31, 2023

2022 journal article

Worse Tibiofemoral Cartilage Composition Is Associated with Insufficient Gait Kinetics After ACL Reconstruction

MEDICINE & SCIENCE IN SPORTS & EXERCISE, 54(10), 1771–1781.

author keywords: POSTTRAUMATIC OSTEOARTHRITIS; T1 rho; MAGNETIC RESONANCE IMAGING; KNEE ADDUCTION MOMENT; GAIT
MeSH headings : Adolescent; Adult; Anterior Cruciate Ligament Injuries / surgery; Anterior Cruciate Ligament Reconstruction / methods; Biomechanical Phenomena; Cartilage, Articular; Female; Gait; Humans; Kinetics; Knee Joint; Magnetic Resonance Imaging / methods; Male; Osteoarthritis, Knee; Proteoglycans; Young Adult
topics (OpenAlex): Knee injuries and reconstruction techniques; Total Knee Arthroplasty Outcomes; Osteoarthritis Treatment and Mechanisms
UN Sustainable Development Goals Color Wheel
UN Sustainable Development Goal Categories
5. Gender Equality (Web of Science)
Sources: Web Of Science, ORCID, NC State University Libraries
Added: September 29, 2022

2022 article

Convergent evolution of polyploid genomes from across the eukaryotic tree of life

Hao, Y., Fleming, J., Petterson, J., Lyons, E., Edger, P. P., Pires, J. C., … Conant, G. C. (2022, May 10). G3-GENES GENOMES GENETICS, Vol. 5.

author keywords: polyploidy; convergent evolution; reciprocal gene loss; evolutionary model
MeSH headings : Diploidy; Eukaryota; Evolution, Molecular; Humans; Phylogeny; Polyploidy
topics (OpenAlex): Chromosomal and Genetic Variations; Genomics and Phylogenetic Studies; Protist diversity and phylogeny
TL;DR: By modeling the homoeologous gene losses that occurred in 50 genomes deriving from ten distinct polyploidy events, it is shown that the evolutionary forces acting on polyploids are remarkably similar, regardless of whether they occur in flowering plants, ciliates, fishes, or yeasts. (via Semantic Scholar)
Sources: Web Of Science, NC State University Libraries
Added: May 23, 2022

2022 journal article

Exome sequencing of hepatocellular carcinoma in lemurs identifies potential cancer drivers A pilot study

EVOLUTION MEDICINE AND PUBLIC HEALTH, 10(1), 221–230.

By: E. Gunady*, K. Ware*, S. Plumlee*, N. Devos*, D. Corcoran*, J. Prinz*, H. Misetic*, F. Ciccarelli* ...

co-author countries: United Kingdom of Great Britain and Northern Ireland 🇬🇧
author keywords: liver cancer; mutation; prosimians; non-human primates; TP53; ARID1A; CTNNB1
topics (OpenAlex): Genomics and Phylogenetic Studies; Cancer Genomics and Diagnostics; Genomics and Chromatin Dynamics; RNA modifications and cancer; Cancer-related molecular mechanisms research
TL;DR: This pilot study suggests that human exome capture reagents are a promising tool for genomic studies of cancer in lemurs and other non-human primates. (via Semantic Scholar)
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UN Sustainable Development Goal Categories
15. Life on Land (OpenAlex)
Sources: Web Of Science, NC State University Libraries
Added: May 23, 2022

2022 journal article

Loading during Midstance of Gait Is Associated with Magnetic Resonance Imaging of Cartilage Composition Following Anterior Cruciate Ligament Reconstruction

CARTILAGE, 13(1).

author keywords: biomechanics; vertical ground reaction force; posttraumatic osteoarthritis; T1 rho; ACL
MeSH headings : Adolescent; Adult; Anterior Cruciate Ligament Reconstruction / methods; Cartilage, Articular / pathology; Female; Gait; Humans; Knee Joint / diagnostic imaging; Knee Joint / surgery; Magnetic Resonance Imaging / methods; Male; Young Adult
topics (OpenAlex): Knee injuries and reconstruction techniques; Osteoarthritis Treatment and Mechanisms; Lower Extremity Biomechanics and Pathologies
TL;DR: Biomechanical gait profiles that include greater vGRF during midstance are associated with MRI estimates of lesser proteoglycan density in the MFC, suggesting inability to unload the ACLR limb during midstances may be linked to joint tissue changes associated with PTOA development. (via Semantic Scholar)
Sources: Web Of Science, ORCID, NC State University Libraries
Added: February 21, 2022

2021 article

In Vivo Compositional Changes in the Articular Cartilage of the Patellofemoral Joint Following Anterior Cruciate Ligament Reconstruction

Boling, M. C., Dupell, M., Pfeiffer, S. J., Wallace, K., Lalush, D., Spang, J. T., … Pietrosimone, B. (2022, April 13). ARTHRITIS CARE & RESEARCH, Vol. 74.

MeSH headings : Adolescent; Adult; Anterior Cruciate Ligament Injuries / surgery; Anterior Cruciate Ligament Reconstruction / methods; Cartilage, Articular / diagnostic imaging; Cartilage, Articular / surgery; Female; Humans; Knee Joint / surgery; Magnetic Resonance Imaging / methods; Male; Patellofemoral Joint / diagnostic imaging; Patellofemoral Joint / surgery; Young Adult
topics (OpenAlex): Knee injuries and reconstruction techniques; Lower Extremity Biomechanics and Pathologies; Total Knee Arthroplasty Outcomes
TL;DR: To compare T1ρ relaxation times of the medial and lateral regions of the patella and femoral trochlea at 6 and 12 months following anterior cruciate ligament reconstruction (ACLR) on the ACLR and contralateral extremity, a comparison of proteoglycan density of articular cartilage is conducted. (via Semantic Scholar)
UN Sustainable Development Goals Color Wheel
UN Sustainable Development Goal Categories
5. Gender Equality (Web of Science)
Sources: Web Of Science, ORCID, NC State University Libraries
Added: April 25, 2022

2021 article

Measuring Phylogenetic Information of Incomplete Sequence Data

Seo, T.-K., Gascuel, O., & Thorne, J. L. (2021, September 1). SYSTEMATIC BIOLOGY.

co-author countries: France 🇫🇷 Korea (Republic of) 🇰🇷
MeSH headings : Evolution, Molecular; INDEL Mutation; Models, Genetic; Models, Statistical; Phylogeny; Sequence Alignment
topics (OpenAlex): Genomics and Phylogenetic Studies; Evolution and Paleontology Studies; Genetic diversity and population structure
TL;DR: A new test for model adequacy is developed by comparing the Fisher information of actual and simulated sequences and identifying which alignment sites and tree branches are most affected by gaps and model misspecification. (via Semantic Scholar)
Source: Web Of Science
Added: March 14, 2022

2021 journal article

Tibiofemoral articular cartilage composition differs based on serum biochemical profiles following anterior cruciate ligament reconstruction

OSTEOARTHRITIS AND CARTILAGE, 29(12), 1732–1740.

author keywords: Magnetic resonance imaging; Biomarkers; Posttraumatic osteoarthritis; T1rho
MeSH headings : Anterior Cruciate Ligament Reconstruction; Biomarkers / blood; Cartilage Oligomeric Matrix Protein / blood; Cartilage, Articular / diagnostic imaging; Chemokine CCL2 / blood; Cohort Studies; Female; Humans; Knee Joint / diagnostic imaging; Longitudinal Studies; Magnetic Resonance Imaging; Male; Young Adult
topics (OpenAlex): Knee injuries and reconstruction techniques; Total Knee Arthroplasty Outcomes; Osteoarthritis Treatment and Mechanisms
TL;DR: Profiles of increased serum levels of inflammation and matrix degradation markers preoperatively to 6-months post-ACLR are associated with MRI changes consistent with lesser lateral tibiofemoral cartilage proteoglycan density 12-months after anterior cruciate ligament reconstruction. (via Semantic Scholar)
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UN Sustainable Development Goal Categories
Sources: Web Of Science, ORCID, NC State University Libraries
Added: January 3, 2022

2021 journal article

Association of Jump-Landing Biomechanics With Tibiofemoral Articular Cartilage Composition 12 Months After ACL Reconstruction

ORTHOPAEDIC JOURNAL OF SPORTS MEDICINE, 9(7).

author keywords: ACL; biomechanics; imaging; magnetic resonance; motion analysis; kinesiology
topics (OpenAlex): Knee injuries and reconstruction techniques; Total Knee Arthroplasty Outcomes; Sports injuries and prevention
TL;DR: At 12 months postoperatively, lower peak KEM and greater peak vGRF during jump landing were related to longer T1ρ relaxation times, suggesting worse articular cartilage composition. (via Semantic Scholar)
Sources: Web Of Science, ORCID, NC State University Libraries
Added: September 13, 2021

2021 article

Pedigree-based and phylogenetic methods support surprising patterns of mutation rate and spectrum in the gray mouse lemur

Campbell, C. R., Tiley, G. P., Poelstra, J. W., Hunnicutt, K. E., Larsen, P. A., Lee, H.-J., … Yoder, A. D. (2021, July 16). HEREDITY.

co-author countries: United Kingdom of Great Britain and Northern Ireland 🇬🇧
MeSH headings : Animals; Cheirogaleidae / genetics; Genome; Mice; Mutation Rate; Pedigree; Phylogeny
topics (OpenAlex): Genomics and Phylogenetic Studies; Evolution and Genetic Dynamics; Genetic diversity and population structure
TL;DR: This study provides the first direct mutation-rate estimate for a strepsirrhine (i.e., the lemurs and lorises), which comprises nearly half of the primate clade, and finds both the rate and spectrum to be robust to the manipulation of a wide range of computational filtering criteria. (via Semantic Scholar)
UN Sustainable Development Goals Color Wheel
UN Sustainable Development Goal Categories
15. Life on Land (OpenAlex)
Source: Web Of Science
Added: August 2, 2021

2021 journal article

A simultaneous [C-11]raclopride positron emission tomography and functional magnetic resonance imaging investigation of striatal dopamine binding in autism

TRANSLATIONAL PSYCHIATRY, 11(1).

MeSH headings : Autism Spectrum Disorder / diagnostic imaging; Autistic Disorder / diagnostic imaging; Corpus Striatum / diagnostic imaging; Corpus Striatum / metabolism; Dopamine; Humans; Magnetic Resonance Imaging; Positron-Emission Tomography; Raclopride; Receptors, Dopamine D2 / metabolism
topics (OpenAlex): Autism Spectrum Disorder Research; Functional Brain Connectivity Studies; Obsessive-Compulsive Spectrum Disorders
TL;DR: The findings that ASD is characterized by impaired striatal phasic dopamine release to incentives provide support for the social motivation hypothesis of autism and PET-fMRI may be a suitable tool to evaluate novel ASD therapeutics targeting the striatal dopamine system. (via Semantic Scholar)
Sources: Web Of Science, ORCID, NC State University Libraries
Added: February 15, 2021

2020 article

A simultaneous [<sup>11</sup>C]raclopride positron emission tomography and functional magnetic resonance imaging investigation of striatal dopamine binding in autism

MedRxiv.

By: N. Zürcher, E. Walsh*, R. Phillips*, P. Cernasov*, C. Tseng, A. Dharanikota n, E. Smith, Z. Li ...

Contributors: N. Zürcher, E. Walsh*, R. Phillips*, P. Cernasov*, C. Tseng, A. Dharanikota n, E. Smith, Z. Li ...

topics (OpenAlex): Autism Spectrum Disorder Research; Functional Brain Connectivity Studies; Obsessive-Compulsive Spectrum Disorders
Source: ORCID
Added: March 7, 2025

2020 journal article

Incorporating Nearest-Neighbor Site Dependence into Protein Evolution Models

JOURNAL OF COMPUTATIONAL BIOLOGY, 27(3), 361–375.

By: G. Larson*, J. Thorne n & S. Schmidler*

author keywords: diffusion process; dynamic programming; evolution; phylogeny; protein structure
MeSH headings : Computational Biology / methods; Evolution, Molecular; Models, Statistical; Proteins / chemistry; Proteins / metabolism; Sequence Alignment; Sequence Analysis, Protein; Structural Homology, Protein
topics (OpenAlex): Genomics and Phylogenetic Studies; Genetic diversity and population structure; Bioinformatics and Genomic Networks
TL;DR: This work develops a simple model of site-dependent sequence evolution, which is used to demonstrate the bias resulting from the application of standard site-independent sequence evolution models and yields a significant reduction of bias in estimated evolutionary distances. (via Semantic Scholar)
UN Sustainable Development Goals Color Wheel
UN Sustainable Development Goal Categories
15. Life on Land (Web of Science)
Source: Web Of Science
Added: April 20, 2020

2019 article

ASSOCIATIONS BETWEEN LATERAL COMPARTMENT T1RHO MRI INTER-LIMB RATIOS AND CHANGES IN WALKING GAIT KINEMATICS FOLLOWING ANTERIOR CRUCIATE LIGAMENT RECONSTRUCTION

Pfeiffer, S. J., Spang, J. T., Nissman, D., Lalush, D., Wallace, K., Harkey, M. S., … Pietrosimone, B. (2019, April). OSTEOARTHRITIS AND CARTILAGE, Vol. 27, pp. S136–S137.

topics (OpenAlex): Knee injuries and reconstruction techniques; Total Knee Arthroplasty Outcomes; Muscle activation and electromyography studies
Sources: Web Of Science, NC State University Libraries
Added: April 20, 2020

2019 journal article

Improving Cancer Drug Discovery by Studying Cancer across the Tree of Life

MOLECULAR BIOLOGY AND EVOLUTION, 37(1), 11–17.

By: J. Somarelli*, A. Boddy*, H. Gardner*, S. DeWitt*, J. Tuohy*, K. Megquier*, M. Sheth*, S. Hsu* ...

author keywords: veterinary oncology; cross-species studies; cancer drug discovery; evolutionary biology
MeSH headings : Animals; Drug Discovery; Humans; Neoplasms / drug therapy; Neoplasms / veterinary
topics (OpenAlex): Animal Genetics and Reproduction; Genomics and Phylogenetic Studies; Cancer Genomics and Diagnostics
TL;DR: Clinical trials in veterinary patients with cancer provide an opportunity to evaluate a novel therapeutic in a setting that recapitulates many of the key features of human cancers, including key genomic aberrations that underly tumor development, response and resistance to treatment, and the presence of comorbidities that can affect outcomes. (via Semantic Scholar)
Source: Web Of Science
Added: March 10, 2020

2018 journal article

Lesser Mechanical Loading During Walking Gait Associates with Worse Proteoglycan Density 6 months Following Anterior Cruciate Ligament Reconstruction

Medicine & Science in Sports & Exercise, 50, 40–41.

topics (OpenAlex): Knee injuries and reconstruction techniques; Total Knee Arthroplasty Outcomes; Sports injuries and prevention
Source: ORCID
Added: March 7, 2025

2018 journal article

3D Auto-Context-Based Locality Adaptive Multi-Modality GANs for PET Synthesis

IEEE TRANSACTIONS ON MEDICAL IMAGING, 38(6), 1328–1339.

co-author countries: Australia 🇦🇺 China 🇨🇳
author keywords: Image synthesis; positron emission topography (PET); generative adversarial networks (GANs); locality adaptive fusion; multi-modality
MeSH headings : Brain / diagnostic imaging; Databases, Factual; Deep Learning; Humans; Imaging, Three-Dimensional / methods; Magnetic Resonance Imaging / methods; Phantoms, Imaging; Positron-Emission Tomography / methods; Radiation Dosage
topics (OpenAlex): Advanced Image Processing Techniques; Generative Adversarial Networks and Image Synthesis; Image and Signal Denoising Methods
TL;DR: Experimental results show that the proposed 3D auto-context-based locality adaptive multi-modality generative adversarial networks model (LA-GANs) outperforms the traditional multi- modality fusion methods used in deep networks, as well as the state-of-the-art PET estimation approaches. (via Semantic Scholar)
Sources: Web Of Science, ORCID, NC State University Libraries
Added: April 20, 2020

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