Lori L. Bonnycastle
- Genetic Associations and Epidemiology
- Pancreatic function and diabetes
- Genetic Mapping and Diversity in Plants and Animals
- Nutrition, Genetics, and Disease
- Genomics and Rare Diseases
- Bioinformatics and Genomic Networks
- Adipose Tissue and Metabolism
- Epigenetics and DNA Methylation
- Genetic and phenotypic traits in livestock
- RNA modifications and cancer
- Liver Disease Diagnosis and Treatment
- Metabolism, Diabetes, and Cancer
- Lipid metabolism and disorders
- Cancer-related molecular mechanisms research
- Diet, Metabolism, and Disease
- Peroxisome Proliferator-Activated Receptors
- Cancer-related gene regulation
- Monoclonal and Polyclonal Antibodies Research
- Diet and metabolism studies
- RNA Research and Splicing
- Genetics and Physical Performance
- Congenital heart defects research
- CRISPR and Genetic Engineering
- Regulation of Appetite and Obesity
- Glycosylation and Glycoproteins Research
National Human Genome Research Institute
2016-2025
National Institutes of Health
2016-2025
University of Arizona
2020
Icahn School of Medicine at Mount Sinai
2020
Boston Children's Hospital
2020
Government of the United States of America
2019
Eli Lilly (United Kingdom)
2016
University Hospital of Zurich
2011
Carnegie Mellon University
2011
University of North Carolina at Chapel Hill
2007
Abstract Genetic variants that inactivate protein-coding genes are a powerful source of information about the phenotypic consequences gene disruption: crucial for function an organism will be depleted such in natural populations, whereas non-essential tolerate their accumulation. However, predicted loss-of-function enriched annotation errors, and tend to found at extremely low frequencies, so analysis requires careful variant very large sample sizes 1 . Here we describe aggregation 125,748...
Identifying the genetic variants that increase risk of type 2 diabetes (T2D) in humans has been a formidable challenge. Adopting genome-wide association strategy, we genotyped 1161 Finnish T2D cases and 1174 normal glucose-tolerant (NGT) controls with >315,000 single-nucleotide polymorphisms (SNPs) imputed genotypes for an additional >2 million autosomal SNPs. We carried out analysis these SNPs to identify predispose T2D, compared our results two similar studies, 80 1215 1258 NGT controls....
Linkage analysis was used to search the genome for chromosomal regions harboring familial Alzheimer's disease genes. Markers on chromosome 14 gave highly significant positive lod scores in early-onset non-Volga German kindreds; a Zmax of 9.15 (theta = 0.01) obtained with marker D14S43 at 14q24.3. One family yielded score 4.89 0.0). When no assumptions were made about age-dependent penetrance, results still (Zmax 5.94, theta 0.0), despite loss power detect linkage under these conditions....
Structural variants (SVs) rearrange large segments of DNA
To characterize type 2 diabetes (T2D)-associated variation across the allele frequency spectrum, we conducted a meta-analysis of genome-wide association data from 26,676 T2D case and 132,532 control subjects European ancestry after imputation using 1000 Genomes multiethnic reference panel. Promising signals were followed up in additional sets (of 14,545 or 7,397 38,994 71,604 subjects). We identified 13 novel T2D-associated loci (P < 5 × 10-8), including variants near GLP2R, GIP, HLA-DQA1...