Anne E. Kwitek
A5080101531- Genetic Mapping and Diversity in Plants and Animals
- Adipose Tissue and Metabolism
- Bioinformatics and Genomic Networks
- Molecular Biology Techniques and Applications
- Nutrition, Genetics, and Disease
- Genetic Associations and Epidemiology
- Biomedical Text Mining and Ontologies
- Gene expression and cancer classification
- Regulation of Appetite and Obesity
- Birth, Development, and Health
- DNA Repair Mechanisms
- RNA modifications and cancer
- Hormonal Regulation and Hypertension
- Metabolomics and Mass Spectrometry Studies
- CRISPR and Genetic Engineering
- Genomics and Phylogenetic Studies
- Diet, Metabolism, and Disease
- Renin-Angiotensin System Studies
- DNA and Nucleic Acid Chemistry
- Biochemical Analysis and Sensing Techniques
- Animal Genetics and Reproduction
- Diet and metabolism studies
- Effects and risks of endocrine disrupting chemicals
- Diabetes and associated disorders
- Genomics and Rare Diseases
Medical College of Wisconsin
2012-2025
University College London
2023
Marquette University
2021-2023
University of Padua
2023
SIB Swiss Institute of Bioinformatics
2023
Stanford University
2023
Phoenix Bioinformatics
2023
University at Buffalo, State University of New York
2023
University of Southern California
2023
University of Iowa
2011-2021
Abstract The Gene Ontology Consortium (GOC) provides the most comprehensive resource currently available for computable knowledge regarding functions of genes and gene products. Here, we report advances consortium over past two years. new GO-CAM annotation framework was notably improved, formalized model with a computational schema to check validate rapidly increasing repository 2838 GO-CAMs. In addition, describe impacts several collaborations refine GO 10% increase in number annotations,...
There is tremendous potential for genome sequencing to improve clinical diagnosis and care once it becomes routinely accessible, but this will require formalizing research methods into best practices in the areas of sequence data generation, analysis, interpretation reporting. The CLARITY Challenge was designed spur convergence diagnosing genetic disease starting from case history data. DNA samples were obtained three families with heritable disorders genomic donated by platform vendors....
The Alliance of Genome Resources (the Alliance) is a combined effort 7 knowledgebase projects: Saccharomyces Database, WormBase, FlyBase, Mouse the Zebrafish Information Network, Rat and Gene Ontology Resource. seeks to provide several benefits: better service various communities served by these projects; harmonized view data for all biomedical researchers, bioinformaticians, clinicians, students; more sustainable infrastructure. has cross-organism useful comparative views gene function,...
Abstract The Rat Genome Database (RGD, https://rgd.mcw.edu) has evolved from simply a resource for rat genetic markers, maps, and genes, by adding multiple genomic data types extensive disease phenotype annotations developing tools to effectively mine, analyze, visualize the available data, empower investigators in their hypothesis-driven research. Leveraging its robust flexible infrastructure, RGD added human eight other model organisms (mouse, 13-lined ground squirrel, chinchilla, naked...
Abstract The Alliance of Genome Resources (Alliance) is an extensible coalition knowledgebases focused on the genetics and genomics intensively studied model organisms. organized as individual knowledge centers with strong connections to their research communities a centralized software infrastructure, discussed here. Model organisms currently represented in are budding yeast, Caenorhabditis elegans, Drosophila, zebrafish, frog, laboratory mouse, rat, Gene Ontology Consortium. project rapid...
Here we present the first genetic analysis of adiponectin levels, a newly identified adipocyte-derived protein. Recent work has suggested that may play role in mediating effects body weight as risk factor for coronary artery disease. For this assayed serum levels 1100 adults predominantly northern European ancestry distributed across 170 families. Quantitative detected an additive heritability 46%. The maximum LOD score genome wide scan was 4.06 (P = 7.7 × 10−6), 35 cM from pter on...
Bardet–Biedl syndrome (BBS) is a genetically heterogeneous autosomal recessive disorder with the primary clinical features of obesity, pigmented retinopathy, polydactyly, hypogenitalism, mental retardation and renal anomalies. Associated include diabetes mellitus, hypertension congenital heart disease. There are six known BBS loci, mapping to chromosomes 2, 3, 11, 15, 16 20. The BBS2 locus was initially mapped an 18 cM interval on chromosome 16q21 large inbred Bedouin kindred. Further...
Models of human disease have long been used to understand the basic pathophysiology and facilitate discovery new therapeutics. However, as models there debates about utility these their ability mimic clinical at phenotypic level. The application genetic studies both humans model systems allows for a paradigm, whereby novel comparative genomics strategy combined with correlates can be bridge between relevance utility. This study presents genomic map “candidate hypertension loci in humans”...
The BB (BioBreeding) rat is one of the best models spontaneous autoimmune diabetes and used to study non-MHC loci contributing Type 1 diabetes. in diabetes-prone (BBDP) polygenic, dependent upon mutations at several loci. Iddm1 , on chromosome 4, responsible for a lymphopenia ( lyp ) phenotype essential In this study, we report positional cloning Iddm1/lyp locus. We show that due frameshift deletion novel member Ian5 Immune-Associated Nucleotide (IAN)-related gene family, resulting...
The laboratory rat ( Rattus norvegicus ) is a key animal model for biomedical research. However, the genetic infrastructure required connecting phenotype and genotype in currently incomplete. Here, we report construction integration of two genomic maps: dense linkage map first radiation hybrid (RH) rat. was constructed F 2 intercrosses (SHRSP × BN FHH ACI), containing total 4736 simple sequence length polymorphism (SSLP) markers. Allele sizes 4328 markers were characterized 48 most commonly...
Bardet-Biedl syndrome is a heterogeneous autosomal recessive disorder characterized by obesity, mental retardation, polydactyly, retinitis pigmentosa and hypogonadism. Patients with this also have high incidence of hypertension, diabetes mellitus, renal cardiovascular anomalies. Three independent loci causing previously been reported. In study, we utilized DNA pooling approach using samples from highly inbred Bedouin kindred to identify new locus on chromosome 15. The results further...
Large numbers of inbred laboratory rat strains have been developed for a range complex disease phenotypes. To gain insights into the evolutionary pressures underlying selection these phenotypes, we sequenced genomes 27 strains, including 11 models hypertension, diabetes, and insulin resistance, along with their respective control strains. Altogether, identified more than 13 million single-nucleotide variants, indels, structural variants across Analysis strain-specific selective sweeps gene...
Formed in late 1999, the Rat Genome Database (RGD, https://rgd.mcw.edu) will be 20 2020, Year of Rat. Because laboratory rat, Rattus norvegicus, has been used as a model for complex human diseases such cardiovascular disease, diabetes, cancer, neurological disorders and arthritis, among others, >150 years, RGD always disease-focused committed to providing data tools researchers doing comparative genomics translational studies. At its inception, before sequencing rat genome, started with only...
The seventh iteration of the reference genome assembly for Rattus norvegicus-mRatBN7.2-corrects numerous misplaced segments and reduces base-level errors by approximately 9-fold increases contiguity 290-fold compared with its predecessor. Gene annotations are now more complete, improving mapping precision genomic, transcriptomic, proteomics datasets. We jointly analyzed 163 short-read whole-genome sequencing datasets representing 120 laboratory rat strains substrains using mRatBN7.2. defined...
Dinucleotide repeat polymorphisms at the D17S250 and D17S261 loci James L. Weber, Weber * *To whom correspondence should be addressed Search for other works by this author on: Oxford Academic PubMed Google Scholar Anne E. Kwitek, Kwitek Paula May, May Margaret R. Wallance, Wallance 1Howard Hughes Medical Institute, University of Michigan1150 W. Center Drive, Ann Arbor, Ml 48109-0650, USA Fracis S. Collins, Collins David H. Ledbetter 2Institute Molecular Genetics, Baylor College...
The Rat Genome Database (RGD, Author Webpage) is one of the core resources for rat genomics and recent developments have focused on providing support disease-based research using model. Recognizing importance as a disease model we employed targeted curation strategies to curate genes, QTL strain data neurological cardiovascular areas. This work has centered but also includes mouse human create 'disease portals' that provide unified view models these diseases across three species. efforts...
This study examined the genetic basis of hypertension and renal disease in Dahl SS/Mcwi (Dahl Salt-Sensitive) rats using a complete chromosome substitution panel consomic which each 20 autosomes X Y chromosomes were individually transferred from Brown Norway (BN) rat onto background. Male female two parental 22 strains (10–12 rats/group) fed high-salt (8.0% NaCl) diet for 3 wk. Mean arterial blood pressure rose by 60 mmHg urinary protein albumin excretion increased 3- 20-fold, respectively,...