A5031361951- Genomics and Rare Diseases
- Bone Metabolism and Diseases
- Cancer Genomics and Diagnostics
- Genetic and phenotypic traits in livestock
- Genomics and Phylogenetic Studies
- Biomedical Text Mining and Ontologies
- Estrogen and related hormone effects
- Genetic Associations and Epidemiology
- Immune Response and Inflammation
- Biocrusts and Microbial Ecology
- BRCA gene mutations in cancer
- Genetic diversity and population structure
- Cell Adhesion Molecules Research
- Genomic variations and chromosomal abnormalities
- Clostridium difficile and Clostridium perfringens research
- Evolutionary Game Theory and Cooperation
- Bone health and osteoporosis research
- Genetic Mapping and Diversity in Plants and Animals
- Veterinary Oncology Research
- Protist diversity and phylogeny
- Plant and animal studies
- Ethics in Clinical Research
- Ecology and Vegetation Dynamics Studies
- Phytoestrogen effects and research
- Public Health Policies and Education
Baylor Genetics
2021-2024
Baylor College of Medicine
2019-2024
University of Houston
2024
Cornell University
2016-2020
New York State College of Veterinary Medicine
2016
Rice University
2006-2011
University of Pittsburgh Medical Center
2004-2005
Università Cattolica del Sacro Cuore
2005
Institute of Biomedical Technologies
2005
Institute of Genetic and Biomedical Research
2005
Abstract The domestic dog is becoming an increasingly valuable model species in medical genetics, showing particular promise to advance our understanding of cancer and orthopaedic disease. Here we undertake the largest canine genome-wide association study date, with a panel over 4,200 dogs genotyped at 180,000 markers, accelerate mapping efforts. For complex diseases, identify loci significantly associated hip dysplasia, elbow idiopathic epilepsy, lymphoma, mast cell tumour granulomatous...
Abstract Disparities in data underlying clinical genomic interpretation is an acknowledged problem, but there a paucity of demonstrating it. The All Us Research Program collecting including whole-genome sequences, health records, and surveys for at least million participants with diverse ancestry access to healthcare, representing one the largest biomedical research repositories its kind. Here, we examine pathogenic likely variants that were identified cohort. European subgroup showed...
Abstract Background The All of Us Research Program ( ) is one the world’s largest sequencing efforts that will generate genetic data for over million individuals from diverse backgrounds. This historic megaproject create novel research platforms integrate an unprecedented amount with longitudinal health information. Here, we describe design Celeste , a resilient, open-source cloud architecture implementing genomics workflows has successfully analyzed petabytes participant genomic information...
Autosomal recessive osteopetrosis (ARO) is a paradigm for genetic diseases that cause severe, often irreversible, defects before birth. In ARO, osteoclasts cannot remove mineralized cartilage, bone marrow severely reduced, and be remodeled growth. More than 50% of the patients show in osteoclastic vacuolar-proton-pump subunit, ATP6a3. We treated ATP6a3-deficient mice by utero heterologous hematopoietic stem cell (HSC) transplant from outbred GFP transgenic mice. Dramatic phenotype rescue was...
The osteoclast degrades bone in cycles; between cycles, the cell is motile. Resorption occurs by acid transport into an extracellular compartment defined αvβ3 integrin ring. NO has been implicated regulation of turnover due to stretch or via estrogen signals, but a specific mechanism linking osteoclastic activity not described. stimulates motility, and at high concentrations causes detachment terminates resorption. Here we demonstrate that regulates attachment through cGMP-dependent protein...
Conformation has long been a driving force in horse selection and breed creation as predictor for performance. The Tennessee Walking Horse (TWH) ranges size from 1.5 to 1.7 m is often used trail, show, pleasure horse. To investigate the contribution of genetics body conformation TWH, we collected DNA samples, measurements, gait/training information 282 individuals. We analyzed 32 measures with principal component analysis. Principal (PC)1 captured 28.5% trait variance, while PC2 comprised...
The domesticated horse has played a unique role in human history, serving not just as source of animal protein, but also catalyst for long-distance migration and military conquest. As result, the developed physiological adaptations to meet demands both their climatic environment relationship with man. Completed 2009, first reference genome assembly (EquCab 2.0) produced most publicly available genetic variations annotations this species. Yet, there are around 400 geographically...
Invasive
Estrogens have complex effects on the skeleton, including regulation of modeling and maintenance bone mass, which vary with cell type developmental stage. Osteoblasts are key regulators skeletal matrix synthesis degradation. However, whether osteocytes, osteoblasts or earlier progenitors mediate estrogen effects, importance receptors (ERs) alpha beta, remain unclear. To address response in human cells closely related to secretory osteoblasts, we studied MG63 ERalpha ERbeta reduced low levels...
Abstract Pharmacogenomics promises improved outcomes through individualized prescribing. However, the lack of diversity in studies impedes clinical translation and equitable application precision medicine. We evaluated frequencies PGx variants, predicted phenotypes, medication exposures using whole genome sequencing EHR data from nearly 100k diverse All Us Research Program participants. report 100% participants carried at least one pharmacogenomics variant all (99.13%) had a phenotype with...
The genetic diversity of many protists is unknown. differences that result from this can be important in interactions among individuals. social amoeba Polysphondylium violaceum, which a member the Dictyostelia, has stage where individual amoebae aggregate together to form multicellular fruiting body with dead stalk cells and live spores. Individuals either cooperate same clone, or sort clonal bodies. In study we look at P. violaceum how impacts behavior. phylogeny ribosomal DNA sequence (17S...
Abstract We studied osteoclastic differentiation from normal and osteopetrotic human CD14 cells in vitro. Defects acid transport, organic matrix removal, cell fusion with deficient attachment were found. Analysis of genotypes showed that TCIRG1 anomalies correlated transport defects, but surprisingly, removal failure CLCN7 defects; an defect had CLCN7. Introduction: Osteopetrotic subjects usually have macrophage activity, despite identification genetic defects associated osteopetrosis, the...
Competition among pollen grains to fertilize ovules is expected lead increased vigor of the resulting progeny. Tests this "pollen‐competition hypothesis," however, have been equivocal, and may, in part, result from levels competition (pollen load sizes) and/or progeny growth environment chosen. Our study Fragaria virginiana controlled for these variables by identifying seeds produced under low high loads an empirically derived load–seed set response curve. We assessed fitness at germination...
Abstract Nitric oxide (NO) can reduce bone loss in chronic diseases. NO inhibits or kills osteoclasts, but the mechanism of action human turnover is not clear. To address this, we studied effects on attachment and motility osteoclasts mineralized tissue culture substrates under defined conditions. Osteoclasts were differentiated vitro from CD14 selected monocytes RANKL CSF‐1, characterized by cathepsin K expression, tartrate‐resistant acid phosphatase (TRAP) activity, secretion, lacunar...
Abstract The dog is an exciting genetic system in which many simple and complex traits have now been mapped. For the causal mutation a polymorphic SINE. To investigate genome-wide pattern of young SINEC_Cf insertions, we sampled 62 dogs representing 59 breeds sequenced libraries enriched for SINE flanks. In each detect average 10,423 loci all together identify 81,747 putative SINEs. We validated 184 SINEs inserted protein-coding exons, untranslated regions, introns intergenic sequence. both...
OBJECTIVE To identify the genetic cause for congenital photosensitivity and hyperbilirubinemia (CPH) in Southdown sheep. ANIMALS 73 sheep from a CPH research flock 48 of various breeds commercial flocks without CPH. PROCEDURES Whole-genome sequencing was performed phenotypically normal heterozygous Heterozygous variants within Slco1b3 coding exons were identified, that contained candidate mutations amplified by PCR assay methods Sanger sequencing. Blood samples other 72 used to determine...
Abstract Disparities in the data that underlies clinical genomic interpretation is an acknowledged problem but there a paucity of demonstrating it. The National Institutes Health’s All Us Research Program aims to collect whole genome sequences, electronic health record (EHR) data, surveys and physical measurements for over million participants diverse ancestry varied access healthcare resources. We grouped by computed genetic summarized frequency pathogenic variation within these groups....
Abstract Purpose Genomic medicine holds great promise for improving healthcare, but integrating searchable and actionable genetic data into electronic health records remains a challenge. Here, we describe Neptune, system managing the interaction between clinical laboratory an record system. Methods We developed Neptune applied it to two sequencing projects that required report customization, variant reanalysis EHR integration. Results enabled analysis of generation delivery systems over...