Search Results - "OTT, JURG"
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Machine learning approaches to explore digenic inheritance
Published in Trends in genetics (01-10-2022)“…Some rare genetic disorders, such as retinitis pigmentosa or Alport syndrome, are caused by the co-inheritance of DNA variants at two different genetic loci…”
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Genetic linkage analysis in the age of whole-genome sequencing
Published in Nature reviews. Genetics (01-05-2015)“…Key Points Genetic linkage analysis can be used as a tool for estimating the genetic distance between two loci. In family data, a small recombination fraction…”
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Population genetics: past, present, and future
Published in Human genetics (01-02-2021)“…We present selected topics of population genetics and molecular phylogeny. As several excellent review articles have been published and generally focus on…”
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Analyses of polymorphisms of intron 2 of OPRK1 (kappa-opioid receptor gene) in association with opioid and cocaine dependence diagnoses in an African-American population
Published in Neuroscience letters (18-01-2022)“…•The kappa-opioid receptor (KOR)/dynorphin system is regulated by stress and heavy exposure to drugs including opioid and cocaine.•Activation of the KOR system…”
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A multi-threaded approach to genotype pattern mining for detecting digenic disease genes
Published in Frontiers in genetics (24-08-2023)“…To locate disease-causing DNA variants on the human gene map, the customary approach has been to carry out a genome-wide association study for one variant…”
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Implication of Melanocortin Receptor Genes in the Familial Comorbidity of Type 2 Diabetes and Depression
Published in International journal of molecular sciences (01-08-2022)“…The melanocortin receptors are G-protein-coupled receptors, which are essential components of the hypothalamic–pituitary–adrenal axis, and they mediate the…”
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A 3' UTR SNP rs885863, a cis-eQTL for the circadian gene VIPR2 and lincRNA 689, is associated with opioid addiction
Published in PloS one (05-11-2019)“…There is a reciprocal relationship between the circadian and the reward systems. Polymorphisms in several circadian rhythm-related (clock) genes were…”
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AprioriGWAS, a new pattern mining strategy for detecting genetic variants associated with disease through interaction effects
Published in PLoS computational biology (01-06-2014)“…Identifying gene-gene interaction is a hot topic in genome wide association studies. Two fundamental challenges are: (1) how to smartly identify combinations…”
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Comorbidity of Novel CRHR2 Gene Variants in Type 2 Diabetes and Depression
Published in International journal of molecular sciences (01-09-2022)“…The corticotropin-releasing hormone receptor 2 (CRHR2) gene encodes CRHR2, contributing to the hypothalamic–pituitary–adrenal stress response and to…”
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Mathematical multi-locus approaches to localizing complex human trait genes
Published in Nature reviews. Genetics (01-09-2003)“…Statistical analysis methods for gene mapping originated in counting recombinant and non-recombinant offspring, but have now progressed to sophisticated…”
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A genome-wide association study in Han Chinese identifies a susceptibility locus for primary Sjögren's syndrome at 7q11.23
Published in Nature genetics (01-11-2013)“…Jing Wang, Fengchun Zhang and colleagues report the results of a genome-wide association study of primary Sjögren's syndrome, a common autoimmune disease. They…”
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Distribution and characterization of regulatory elements in the human genome
Published in Genome research (01-12-2002)“…The regulation of transcription and subsequent gene splicing are crucial to correct gene expression. Although a number of regulatory sequences involved in both…”
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Complement Factor H Polymorphism in Age-Related Macular Degeneration
Published in Science (American Association for the Advancement of Science) (15-04-2005)“…Age-related macular degeneration (AMD) is a major cause of blindness in the elderly. We report a genome-wide screen of 96 cases and 50 controls for…”
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Genotype Pattern Mining for Pairs of Interacting Variants Underlying Digenic Traits
Published in Genes (28-07-2021)“…Some genetic diseases ("digenic traits") are due to the interaction between two DNA variants, which presumably reflects biochemical interactions. For example,…”
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Re-evaluation of the KMSK scales, rapid dimensional measures of self-exposure to specific drugs: Gender-specific features
Published in Drug and alcohol dependence (01-09-2018)“…•KMSK scales for cannabis, alcohol, cocaine and heroin are rapidly administered.•KMSK scales provide a dimensional measure of maximal self-exposure to each…”
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Genome-wide association scan in north Indians reveals three novel HLA-independent risk loci for ulcerative colitis
Published in Gut (01-04-2015)“…Over 100 ulcerative colitis (UC) loci have been identified by genome-wide association studies (GWASs) primarily in Caucasians (CEUs). Many of them have weak…”
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Editorial: Multi-Omics Study in Revealing Underlying Pathogenesis of Complex Diseases: A Translational Perspective
Published in Frontiers in genetics (22-10-2021)Get full text
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Drug Addiction and Stress‐Response Genetic Variability: Association Study in African Americans
Published in Annals of human genetics (01-07-2014)“…Summary Stress is a significant risk factor in the development of drug addictions and in addiction relapse susceptibility. This hypothesis‐driven study was…”
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Multilocus association mapping using generalized ridge logistic regression
Published in BMC bioinformatics (29-09-2011)“…In genome-wide association studies, it is widely accepted that multilocus methods are more powerful than testing single-nucleotide polymorphisms (SNPs) one at…”
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