A5043548141- Genetic Associations and Epidemiology
- Genomic variations and chromosomal abnormalities
- Genetic Mapping and Diversity in Plants and Animals
- Colorectal Cancer Treatments and Studies
- Bone Metabolism and Diseases
- Gene expression and cancer classification
- Genetic Syndromes and Imprinting
- Cancer Treatment and Pharmacology
- Genetics and Neurodevelopmental Disorders
- Growth Hormone and Insulin-like Growth Factors
- Orthodontics and Dentofacial Orthopedics
- Advanced Breast Cancer Therapies
- Bone health and osteoporosis research
- Cell Image Analysis Techniques
- Regulation of Appetite and Obesity
- Dental Implant Techniques and Outcomes
- Genomics and Rare Diseases
- dental development and anomalies
- Amyotrophic Lateral Sclerosis Research
- Bipolar Disorder and Treatment
- Pluripotent Stem Cells Research
- CRISPR and Genetic Engineering
- Alcohol Consumption and Health Effects
- Single-cell and spatial transcriptomics
- Eating Disorders and Behaviors
Instituto Superior Politécnico Metropolitano de Angola
2024
University of Duisburg-Essen
2016
Indiana University Bloomington
1998-2014
University of North Carolina at Chapel Hill
2013
Indiana University School of Medicine
1997-2012
Indiana University – Purdue University Indianapolis
1997-2012
University School
2007
Indiana University
2007
Expression, genetic variation, and tissues Human genomes show extensive variation across individuals, but we have only just started documenting the effects of this on regulation gene expression. Furthermore, a few been examined per variant. In order to examine how expression varies among within Genotype-Tissue Expression (GTEx) Consortium collected 1641 postmortem samples covering 54 body sites from 175 individuals. They identified quantitative traits that affect determined which these...
We have used a translational convergent functional genomics (CFG) approach to identify and prioritize genes involved in schizophrenia, by gene-level integration of genome-wide association study data with other genetic gene expression studies humans animal models. Using this polyevidence scoring pathway analyses, we top (DISC1, TCF4, MBP, MOBP, NCAM1, NRCAM, NDUFV2, RAB18, as well ADCYAP1, BDNF, CNR1, COMT, DRD2, DTNBP1, GAD1, GRIA1, GRIN2B, HTR2A, NRG1, RELN, SNAP-25, TNIK), brain...
Abstract A major determinant of the risk for osteoporosis is peak bone mineral density (BMD), which largely determined by genetic factors. We recently reported linkage BMD in a large sample healthy sister pairs to chromosome 11q12–13. To identify additional loci underlying normal variations BMD, we conducted an autosomal genome screen 429 Caucasian pairs. Multipoint LOD scores were computed at four skeletal sites. Chromosomal regions with above 1.85 further pursued expanded 595 (464...
Large language models (LLMs) promise to revolutionize many aspects of the creation and dissemination scientific knowledge; however, their use in writing remains controversial, because concerns about authorship, originality, factual inaccuracies, "hallucinations" or confabulations. As a result, several publication venues have explicitly prohibited use. At NEJM AI, we elected instead allow LLMs for submissions, as long authors take complete responsibility content properly acknowledge LLMs....
Abstract Osteoporosis is a leading public health problem that responsible for substantial morbidity and mortality. A major determinant of the risk osteoporosis in later life bone mineral density (BMD) attained during early adulthood. BMD complex trait presumably influenced by multiple genes. Recent linkage three Mendelian BMD-related phenotypes, autosomal dominant high mass, recessive osteoporosis-pseudoglioma, osteopetrosis to chromosome 11q12–13 led us evaluate this region determine if...
Abstract Pooled CRISPR screening has emerged as a powerful method of mapping gene functions thanks to its scalability, affordability, and robustness against well or plate-specific confounders present in array-based 1–6 . Most pooled screens assay for low dimensional phenotypes (e.g. fitness, fluorescent markers). Higher-dimensional assays such perturb-seq are available but costly only applicable transcriptomics readouts 7–11 Recently, optical screening, which combines microscopy-based...
We previously proposed and provided proof of principle for the use a complementary approach, convergent functional genomics (CFG), combining gene expression genetic data, from human animal model studies, as way mining existing GWAS datasets signals that are there already, but did not reach significance using genetics-only approach [Le-Niculescu et al., 2009b]. CFG provides fit-to-disease prioritization genes leads to generalizability in independent cohorts, counterbalances fit-to-cohort...
Abstract Metabolic dysfunction-associated steatotic liver disease (MASLD), with more than 5.5% fat content, is a leading risk factor for chronic an estimated worldwide prevalence of 30%. Though MASLD widely recognized to be polygenic, genetic discovery has been lacking primarily due the need accurate and scalable phenotyping, which proves costly, time-intensive variable in quality. Here, we used machine learning (ML) predict content using three different data modalities available UK Biobank:...
Bevacizumab has broad anti-tumour activity, but substantial risk of hypertension. No reliable markers are available for predicting bevacizumab-induced A genome-wide association study (GWAS) was performed in the phase III bevacizumab-based adjuvant breast cancer trial, ECOG-5103, to evaluate an between genotypes and GWAS conducted those who had experienced systolic blood pressure (SBP) >160 mm Hg during therapy using binary analysis a cumulative dose model total exposure bevacizumab. Common...
Genome-wide association studies (GWAS) are often performed on ratios composed of a numerator trait divided by denominator trait. Examples include body mass index (BMI) and the waist-to-hip ratio, among many others. Explicitly or implicitly, goal forming ratio is typically to adjust for an between denominator. While may be clinically expedient, there several important issues with performing GWAS ratios. Forming does not "adjust" in sense conditioning it, it unclear whether associations...
1000 Background: Neuropathy, one of the most common toxicities associated with taxane therapy, may be severe, function-limiting, and sometimes irreversible. Established predictors for increased risk include advanced age, diabetes, type/dose/schedule taxane. No established biomarkers have been identified to predict patients at greatest risk. Methods: E5103 is a randomized phase III trial comparing standard adjuvant chemotherapy early stage breast cancer same plus concurrent bevacizumab or...
Summary Amyotrophic lateral sclerosis (ALS) is a devastating condition with very limited treatment options. It heterogeneous disease complex genetics and unclear etiology, making the discovery of disease-modifying interventions challenging. To discover novel mechanisms underlying ALS, we leverage unique platform that combines isogenic, induced pluripotent stem cell (iPSC)-derived models disease-causing mutations rich phenotyping via high-content imaging deep learning models. We introduced...
The role played by genetic components in the etiology of Class III phenotype, a class dental malocclusion, is not yet understood. Regions that may be related to development malocclusion have been suggested previously. aim this study was search for linkage with 6 microsatellite markers (D1S234, D4S3038, D6S1689, D7S503, D10S1483, and D19S566), near previously proposed candidate regions III. We performed two-point parametric analysis 42 affected individuals from 10 Brazilian families positive...
Abstract Genome-wide association studies (GWAS) are often performed on ratios composed of a numerator trait divided by denominator trait. Examples include body mass index (BMI) and the waist-to-hip ratio, among many others. Explicitly or implicitly, goal forming ratio is typically to adjust for an between denominator. While may be clinically expedient, there several important issues with performing GWAS ratios. Forming does not “adjust” in sense conditioning it, it unclear whether...