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Open Targets Platform: new developments and updates two years on
2018
Nucleic Acids Research
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The Open Targets Platform integrates evidence from genetics, genomics, transcriptomics, drugs, animal models and scientific literature to score and rank target-disease associations for drug target identification ...
Here, we present the latest developments of the Open Targets Platform, expanding the evidence and target-disease associations with new and improved data sources, refining data quality, enhancing website ...
our target-disease associations and the databases that provide us with annotations for our targets and diseases. ...
doi:10.1093/nar/gky1133
pmid:30462303
fatcat:2elh777ogbhknky33z5xfvaxfa
Mouse genetic and phenotypic resources for human genetics
2012
Human Mutation
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We discuss the nature and availability of data, mice and ES cells from these large-scale programmes, the use of these resources to help prioritise and validate candidate genes in human genetic association ...
Large-scale community projects using mice, based on forward and reverse genetics, and now the pan-genomic phenotyping efforts of the International Mouse Phenotyping Consortium (IMPC), are generating resources ...
Related work in the authors' laboratories is funded by the National Institutes of Health (R01 HG004838-02), the Commission of the European Union (EUMODIC contract number LSHG- CT-2006-037188) and the ...
doi:10.1002/humu.22077
pmid:22422677
pmcid:PMC3473354
fatcat:izb7ubfajjcmzjteprtcmnlw24
Systems genetics, bioinformatics and eQTL mapping
2010
Genetica
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The expected strength of association between expression-level traits and a clinical trait is a function of the underlying genetic model in natural populations, and the gene differential expression between ...
Some examples are DNA-capturing techniques to facilitate gene hunting efforts in highly repetitive genomes, motif-directed profiling to specifically target genetic variation in functional parts of the ...
doi:10.1007/s10709-010-9480-x
pmid:20811929
fatcat:x6rxzagxd5amrocmnawylvzcmi
Enhancing the Promise of Drug Repositioning through Genetics
2017
Frontiers in Pharmacology
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The multitude of genome-wide association studies (GWASs) conducted in recent years represents a large potential pool of novel targets for drug repositioning. ...
Although traitassociated variants identified from GWAS still need to be causally linked to a target gene, recently developed functional genomic techniques, databases, and workflows are helping to remove ...
Open Targets Open Targets collates publicly available data to enable www.targetvalidation.org/ Koscielny et al., 2017 the identification of genes associated with disease through genetic variants and gene ...
doi:10.3389/fphar.2017.00896
pmid:29270124
pmcid:PMC5724196
fatcat:jx3xsglei5dqhgpok43ggxbzfm
Genetics of human metabolism: an update
2015
Human Molecular Genetics
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Furthermore, it has been shown that GIMs provide testable hypotheses for functional genomics and metabolomics and for the identification of novel gene functions and metabolite identities. mGWAS with growing ...
Knowledge of genetic variation in metabolism has many applications of biomedical and pharmaceutical interests, including the functional understanding of genetic associations with clinical end points, design ...
Conflict of Interest statement. None declared. ...
doi:10.1093/hmg/ddv263
pmid:26160913
pmcid:PMC4572003
fatcat:ndmq3hj52vf6bfozrf4zttk6m4
Human genetics in full resolution
2011
Genome Biology
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Large-scale studies: insight into the past and future The steadily dropping price of DNA sequencing is opening up possibilities for large-scale population studies using NGS technology that were previously ...
Given the rapid advances in disease variant identification and the falling costs of sequencing, the utility of large-scale whole-genome sequencing studies for rare variant discovery, and even as a clinical ...
doi:10.1186/gb-2011-12-11-309
pmid:22115312
pmcid:PMC3334593
fatcat:3wu4d6vme5dyjntpij6rpbt3wq
Psoriasis and Genetics
2020
Acta Dermato-Venereologica
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This review summarises recent progress in elucidating the genetic basis of psoriasis, particularly through large genome-wide association studies. ...
Psoriasis is a common inflammatory skin disease caused by the interplay between multiple genetic and environmental risk factors. ...
While a large GWAS-based investigation found the genetic architectures of psoriasis and cardiometabolic traits to be largely distinct (95) , an epidemiological association with obesity is well established ...
doi:10.2340/00015555-3384
pmid:31971603
fatcat:7dwo2mxbevc2nbn7igljopbg7e
Genetics without genes? The centrality of genetic markers in livestock genetics and genomics
2019
History and Philosophy of the Life Sciences
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We define a genetic marker as a (usually material) element existing in different forms in the genome, that can be identified and mapped using a variety (and often combination) of quantitative, classical ...
that a progressively stronger focus on the identification and mapping of markers rather than genes per se became a hallmark of the community. ...
We would additionally like to thank all those who have participated in oral history interviews as part of our research into pig genomics, and those who have allowed us to see their personal documents. ...
doi:10.1007/s40656-019-0290-x
pmid:31659490
fatcat:3sjxc3gwsrfw3mftoyt4pi7e5a
Advances in mouse genetics for the study of human disease
2021
Human Molecular Genetics
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Advances in large-scale mouse mutagenesis programmes allied to high-throughput mouse phenomics are now addressing this challenge and systematically revealing novel gene function and multi-morbidities. ...
Alongside the development of these pan-genomic mutational resources, mouse genetics is employing a range of diversity resources to delineate gene–gene and gene–environment interactions and to explore genetic ...
Advances in large-scale mouse mutagenesis programmes allied to high-throughput mouse phenomics are now addressing this challenge and systematically revealing novel gene function and multimorbidities. ...
doi:10.1093/hmg/ddab153
pmid:34089057
pmcid:PMC8490014
fatcat:dwoeuvwoibdf5d6czfg2mejhua
Systems genetics: challenges and developing strategies
2012
Biologia (Bratislava)
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Analysis of expression quantitative trait loci (eQTLs) is an emerging technique in which individuals are genotyped across a panel of genetic markers and, simultaneously, phenotyped using DNA microarrays ...
Systems genetics is leading researchers to understand genetics systems from holism's viewpoint, and will open a wide field of vision for genetics researchers in systems biology era. ...
Some examples are DNA-capturing techniques to facilitate gene hunting efforts in highly repetitive genomes, motifdirected profiling to specifically target genetic variation in functional parts of the genome ...
doi:10.2478/s11756-012-0026-9
fatcat:sl3skc3c4fbmtmo7n3pw2klod4
Genetic-Driven Druggable Target Identification and Validation
2018
Trends in Genetics
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Here, we discuss the increasing benefits for drug discovery gained from recent advances in genomic and large-scale genetic studies of traits and diseases. i www.omim.org ii www.ebi.ac.uk/gwas/ Floris et ...
Systematic genetic association testing of both human diseases and quantitative traits, along with resultant findings of coincident associations between them, is becoming a powerful approach to infer drug ...
This strategy requires comprehensive and unbiased ascertainment of genetic variation, through large-scale DNA sequencing and the use of informative imputation panels, to split the genetic contributions ...
doi:10.1016/j.tig.2018.04.004
pmid:29803319
pmcid:PMC6088790
fatcat:cpoj2ewtg5botoy6cz3mdbsyoe
Genetics of Atopic Dermatitis: From DNA Sequence to Clinical Relevance
2019
Dermatology
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Assisted by the recent development of large-scale high-throughput genomics, more than 30 genetic loci have been linked to AD across different populations. ...
Identification of these loci, together with functional studies, has already provided new insights into disease biology and identified novel drug targets. ...
Brumpton for commenting on the paper and revising the section on Mendelian randomization, and Brooke N. Wolford for insights on genetic sequencing studies and constructive criticism of the paper. ...
doi:10.1159/000500402
pmid:31203284
fatcat:tlvt4e7qwja3xhtn23wjz3st34
Genetic Landscape of Open Chromatin in Yeast
2013
PLoS Genetics
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The OCRs associated with these multi-target trans-loci coincided with recombination hotspots, telomeres, and gene-rich regions according to the function of the associated regulators. ...
While individual OCRs were associated with a handful of specific genetic markers, gene expression levels were associated with many regulatory loci. ...
Acknowledgments We thank Jaehwan Jahng and Dae Woong Jung for help with the data analysis, Dr. Leonid Kruglyak and Dr. Rachel Brem for providing the yeast strains, and Dr. ...
doi:10.1371/journal.pgen.1003229
pmid:23408895
pmcid:PMC3567132
fatcat:4xhpaubxljgyzm2piterhodgpe
Systematic Mapping of Genetic Interaction Networks
2009
Annual Review of Genetics
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Genetic interactions influencing a phenotype of interest can be identified systematically using libraries of genetic tools that perturb biological systems in a defined manner. ...
Techniques enabling systematic genetic interaction mapping have been extended to other single-celled organisms, the bacteria Escherichia coli and the yeast Schizosaccharomyces pombe, opening the way to ...
This work was supported by a postdoctoral fellowship from the Canadian Institutes of Health Research to S.J.D. and grants from Genome Canada (2004-OGI-3-01) and the Canadian Institutes of Health Research ...
doi:10.1146/annurev.genet.39.073003.114751
pmid:19712041
fatcat:jqjqhebnivbplgeb2d7y3rg44u
Genetic basis of autoimmunity
2015
Journal of Clinical Investigation
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Haliburton, and K.K. Farh for suggestions on the manuscript. The review also benefitted from our conversations with all members of the Marson and Hafler laboratories. ...
Genetic mapping of quantitative traits including gene expression is a complementary approach to epigenomic annotation of functional genomic elements. ...
Looking forward, targeted genome editing of disease variants (termed "SNP editing") in primary human cell types associated with specific diseases is likely to open new possibilities in understanding pathogenesis ...
doi:10.1172/jci78086
pmid:26030227
pmcid:PMC4497748
fatcat:3pf6jl32hrgdrljqqbh7vr4osy
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