A5025998182- Genomic variations and chromosomal abnormalities
- RNA and protein synthesis mechanisms
- Genetics and Neurodevelopmental Disorders
- Chromosomal and Genetic Variations
- Machine Learning in Bioinformatics
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Genomics and Chromatin Dynamics
- Prenatal Screening and Diagnostics
- Genetic Mapping and Diversity in Plants and Animals
- Ion channel regulation and function
- Cardiac electrophysiology and arrhythmias
- Advanced Proteomics Techniques and Applications
- Genetic Associations and Epidemiology
- Genomics and Rare Diseases
- Genomics and Phylogenetic Studies
- Autism Spectrum Disorder Research
- Cardiomyopathy and Myosin Studies
- Immune Cell Function and Interaction
- Photosynthetic Processes and Mechanisms
- DNA Repair Mechanisms
- T-cell and Retrovirus Studies
- Gestational Trophoblastic Disease Studies
- RNA modifications and cancer
- Forensic and Genetic Research
- T-cell and B-cell Immunology
Institute for Systems Biology
2021-2024
InSysBio (Russia)
2023
University of Utah
2003-2018
Howard Hughes Medical Institute
1987-2003
Oklahoma Medical Research Foundation
2003
Mayo Clinic
2003
Biomedical Informatics Research Center Antwerp
1991-2003
Baylor College of Medicine
1996-2002
United States Department of Veterans Affairs
1997
Primary Children's Hospital
1996
The goal of the International HapMap Project is to determine common patterns DNA sequence variation in human genome and make this information freely available public domain. An international consortium developing a map these across by determining genotypes one million or more variants, their frequencies degree association between them, samples from populations with ancestry parts Africa, Asia Europe. will allow discovery variants that affect disease, facilitate development diagnostic tools,...
The familial long-QT syndrome is characterized by a prolonged QT interval on the electrocardiogram, ventricular arrhythmias, and sudden death. It not certain, however, that length of sensitive or specific diagnostic criterion. Recently, we identified genetic markers chromosome 11 distinguished between carriers noncarriers gene for in three families. In this study, compared clinical features assessed accuracy interval.
Genetic factors contribute to heart disease. In this study, linkage analyses have been performed in a family that is predisposed sudden death from cardiac arrhythmias, the long QT syndrome (LQT). A DNA marker at Harvey ras -1 locus (H- -1) was linked LQT with logarithm of likelihood ratio for (lod score) 16.44 θ = 0, which confirms genetic basis trait and localizes gene short arm chromosome 11. As no recombination observed between H- -1, there physiological rationale its involvement disease,...
The pathogenesis of vascular disease is unclear, but genetic factors play an important role. In this study we performed linkage analyses in two families with supravalvular aortic stenosis, inherited disorder that causes narrowing major arteries and may lead to cardiac overload failure. DNA markers on the long arm chromosome 7 (D7S371, D7S395, D7S448, ELN) were linked stenosis both a combined logarithm likelihood for (lod score) 5.9 at ELN locus. These findings indicate gene located same...
Human identification from biological material is largely dependent on the ability to characterize genetic polymorphisms in DNA. Unfortunately, DNA can degrade environment, sometimes below level at which it be amplified by PCR. Protein however chemically more robust than and persist for longer periods. also contains variation form of single amino acid polymorphisms. These used infer status non-synonymous nucleotide polymorphism alleles. To demonstrate this, we mass spectrometry-based shotgun...
We developed a resource, the Arabidopsis PeptideAtlas (www.peptideatlas.org/builds/arabidopsis/), to solve central questions about thaliana proteome, such as significance of protein splice forms and post-translational modifications (PTMs), or simply obtain reliable information specific proteins. is based on published mass spectrometry (MS) data collected through ProteomeXchange reanalyzed uniform processing metadata annotation pipeline. All matched MS-derived peptide are linked spectral,...
Phenotypic evidence indicates that the ability to taste bitter compounds phenylthiocarbamide (PTC) and 6-n-propylthiouracil (PROP) may protect against cigarette smoking. In this study, PTC gene haplotypes were found be associated with both odds of being a smoker importance as smoking motive. Smokers (n = 384) nonsmokers 183) genotyped for polymorphisms affect sensitivity PROP. The "taster" PAV haplotype, relative "nontaster" AVI was predicted reduced lower motivation measured by Wisconsin...