Suchergebnisse - "Fuchsberger, Christian"

minimac2: faster genotype imputation von Fuchsberger, Christian, Abecasis, Gonçalo R., Hinds, David A.

“… Genotype imputation is a key step in the analysis of genome-wide association studies. Upcoming very large reference panels, such as those from The 1000 Genomes …”
Volltext

Fast and accurate genotype imputation in genome-wide association studies through pre-phasing von Howie, Bryan, Fuchsberger, Christian, Stephens, Matthew, Marchini, Jonathan, Abecasis, Gonçalo R

“… Gonçalo Abecasis, Jonathan Marchini and colleagues report a pre-phasing strategy for genotype imputation in GWAS, which they show maintains accuracy while …”
Volltext

Reference-based phasing using the Haplotype Reference Consortium panel von Loh, Po-Ru, Danecek, Petr, Palamara, Pier Francesco, Fuchsberger, Christian, A Reshef, Yakir, K Finucane, Hilary, Schoenherr, Sebastian, Forer, Lukas, McCarthy, Shane, Abecasis, Goncalo R, Durbin, Richard, L Price, Alkes

“… Po-Ru Loh, Alkes Price and colleagues present Eagle2, a reference-based phasing algorithm that allows for highly accurate and efficient phasing of genotypes …”
Volltext

mtDNA-Server: next-generation sequencing data analysis of human mitochondrial DNA in the cloud von Weissensteiner, Hansi, Forer, Lukas, Fuchsberger, Christian, Schöpf, Bernd, Kloss-Brandstätter, Anita, Specht, Günther, Kronenberg, Florian, Schönherr, Sebastian

Volltext

An efficient resampling method for calibrating single and gene-based rare variant association analysis in case-control studies von Lee, Seunggeun, Fuchsberger, Christian, Kim, Sehee, Scott, Laura

“… For aggregation tests of genes or regions, the set of included variants often have small total minor allele counts (MACs), and this is particularly true when …”
Weitere Angaben

Genetic Regulation of Adipose Gene Expression and Cardio-Metabolic Traits von Civelek, Mete, Wu, Ying, Pan, Calvin, Raulerson, Chelsea K, Ko, Arthur, He, Aiqing, Tilford, Charles, Saleem, Niyas K, Stančáková, Alena, Scott, Laura J, Fuchsberger, Christian, Stringham, Heather M, Jackson, Anne U, Narisu, Narisu, Chines, Peter S, Small, Kerrin S, Kuusisto, Johanna, Parks, Brian W, Pajukanta, Päivi, Kirchgessner, Todd, Collins, Francis S, Gargalovic, Peter S, Boehnke, Michael, Laakso, Markku, Mohlke, Karen L, Lusis, Aldons J

“… Subcutaneous adipose tissue stores excess lipids and maintains energy balance. We performed expression quantitative trait locus (eQTL) analyses by using …”
Weitere Angaben

Imputation-powered whole-exome analysis identifies genes associated with kidney function and disease in the UK Biobank von Wuttke, Matthias, König, Eva, Katsara, Maria-Alexandra, Kirsten, Holger, Farahani, Saeed Khomeijani, Teumer, Alexander, Li, Yong, Lang, Martin, Göcmen, Burulca, Pattaro, Cristian, Günzel, Dorothee, Köttgen, Anna, Fuchsberger, Christian

“… Genome-wide association studies have discovered hundreds of associations between common genotypes and kidney function but cannot comprehensively investigate …”
Volltext

Tutorial: a statistical genetics guide to identifying HLA alleles driving complex disease von Sakaue, Saori, Gurajala, Saisriram, Curtis, Michelle, Luo, Yang, Choi, Wanson, Ishigaki, Kazuyoshi, Kang, Joyce B., Rumker, Laurie, Deutsch, Aaron J., Schönherr, Sebastian, Forer, Lukas, LeFaive, Jonathon, Fuchsberger, Christian, Han, Buhm, Lenz, Tobias L., de Bakker, Paul I. W., Okada, Yukinori, Smith, Albert V., Raychaudhuri, Soumya

“… The human leukocyte antigen (HLA) locus is associated with more complex diseases than any other locus in the human genome. In many diseases, HLA explains more …”
Volltext

Smoking and salivary microbiota: a cross-sectional analysis of an Italian alpine population von Antonello, Giacomo, Blostein, Freida, Bhaumik, Deesha, Davis, Elyse, Gögele, Martin, Melotti, Roberto, Pramstaller, Peter, Pattaro, Cristian, Segata, Nicola, Foxman, Betsy, Fuchsberger, Christian

“… The oral microbiota plays an important role in the exogenous nitrate reduction pathway and is associated with heart and periodontal disease and cigarette …”
Volltext

The Power of Gene-Based Rare Variant Methods to Detect Disease-Associated Variation and Test Hypotheses About Complex Disease von Moutsianas, Loukas, Agarwala, Vineeta, Fuchsberger, Christian, Flannick, Jason, Rivas, Manuel A., Gaulton, Kyle J., Albers, Patrick K., McVean, Gil, Boehnke, Michael, Altshuler, David, McCarthy, Mark I.

“… Genome and exome sequencing in large cohorts enables characterization of the role of rare variation in complex diseases. Success in this endeavor, however, …”
Volltext

Systematic mediation and interaction analyses of kidney function genetic loci in a general population study von Ghasemi-Semeskandeh, Dariush, Emmert, David, König, Eva, Foco, Luisa, Gögele, Martin, Sarhan, Mohamed S., Barin, Laura, Fujii, Ryosuke, Fuchsberger, Christian, Peters, Dorien J. M., Pramstaller, Peter P., Pattaro, Cristian

“… Chronic kidney disease (CKD) is a complex disease affecting >10% of the global population, with large between- and within-continent variability reflecting …”
Volltext

miR-22 and miR-29a Are Members of the Androgen Receptor Cistrome Modulating LAMC1 and Mcl-1 in Prostate Cancer von Pasqualini, Lorenza, Bu, Huajie, Puhr, Martin, Narisu, Narisu, Rainer, Johannes, Schlick, Bettina, Schäfer, Georg, Angelova, Mihaela, Trajanoski, Zlatko, Börno, Stefan T, Schweiger, Michal R, Fuchsberger, Christian, Klocker, Helmut

“… The normal prostate as well as early stages and advanced prostate cancer (PCa) require a functional androgen receptor (AR) for growth and survival. The recent …”
Weitere Angaben

Exome array analysis identifies new loci and low-frequency variants influencing insulin processing and secretion von Huyghe, Jeroen R, Jackson, Anne U, Fogarty, Marie P, Buchkovich, Martin L, Stančáková, Alena, Stringham, Heather M, Sim, Xueling, Yang, Lingyao, Fuchsberger, Christian, Cederberg, Henna, Chines, Peter S, Teslovich, Tanya M, Romm, Jane M, Ling, Hua, McMullen, Ivy, Ingersoll, Roxann, Pugh, Elizabeth W, Doheny, Kimberly F, Neale, Benjamin M, Daly, Mark J, Kuusisto, Johanna, Scott, Laura J, Kang, Hyun Min, Collins, Francis S, Abecasis, Gonçalo R, Watanabe, Richard M, Boehnke, Michael, Laakso, Markku, Mohlke, Karen L

“… Karen Mohlke, Markku Laakso, Michael Boehnke and colleagues report the first application of the Illumina HumanExome Beadchip array, examining association with …”
Volltext

Nuclear and mitochondrial genetic variants associated with mitochondrial DNA copy number von Koller, Adriana, Filosi, Michele, Weissensteiner, Hansi, Fazzini, Federica, Gorski, Mathias, Pattaro, Cristian, Schönherr, Sebastian, Forer, Lukas, Herold, Janina M., Stark, Klaus J., Döttelmayer, Patricia, Hicks, Andrew A., Pramstaller, Peter P., Würzner, Reinhard, Eckardt, Kai-Uwe, Heid, Iris M., Fuchsberger, Christian, Lamina, Claudia, Kronenberg, Florian

“… Mitochondrial DNA copy number (mtDNA-CN) is a biomarker for mitochondrial dysfunction associated with several diseases. Previous genome-wide association …”
Volltext

Genome-wide association meta-analysis of human olfactory identification discovers sex-specific and sex-differential genetic variants von Förster, Franz, Emmert, David, Horn, Katrin, Pott, Janne, Frasnelli, Johannes, Imtiaz, Mohammed Aslam, Melas, Konstantinos, Talevi, Valentina, Chen, Honglei, Engel, Christoph, Filosi, Michele, Fornage, Myriam, Gögele, Martin, Löffler, Markus, Mosley, Thomas H., Pattaro, Cristian, Pramstaller, Peter, Shrestha, Srishti, Aziz, N. Ahmad, Breteler, Monique M. B., Wirkner, Kerstin, Scholz, Markus, Fuchsberger, Christian

“… Smelling is a human sense, expressing strong sexual dimorphisms. We aim to improve the knowledge of the genetics of human olfactory perception by performing an …”
Volltext

Genetic determinants of complement activation in the general population von Noce, Damia, Foco, Luisa, Orth-Höller, Dorothea, König, Eva, Barbieri, Giulia, Pietzner, Maik, Ghasemi-Semeskandeh, Dariush, Coassin, Stefan, Fuchsberger, Christian, Gögele, Martin, Del Greco M., Fabiola, De Grandi, Alessandro, Summerer, Monika, Wheeler, Eleanor, Langenberg, Claudia, Lass-Flörl, Cornelia, Pramstaller, Peter Paul, Kronenberg, Florian, Würzner, Reinhard, Pattaro, Cristian

“… Complement is a fundamental innate immune response component. Its alterations are associated with severe systemic diseases. To illuminate the complement’s …”
Volltext

Common, low-frequency, and rare genetic variants associated with lipoprotein subclasses and triglyceride measures in Finnish men from the METSIM study von Davis, James P., Huyghe, Jeroen R., Locke, Adam E., Jackson, Anne U., Sim, Xueling, Stringham, Heather M., Teslovich, Tanya M., Welch, Ryan P., Fuchsberger, Christian, Narisu, Narisu, Chines, Peter S., Kangas, Antti J., Soininen, Pasi, Ala-Korpela, Mika, Kuusisto, Johanna, Collins, Francis S., Laakso, Markku, Boehnke, Michael, Mohlke, Karen L.

“… Lipid and lipoprotein subclasses are associated with metabolic and cardiovascular diseases, yet the genetic contributions to variability in subclass traits are …”
Volltext

Frequency of Heterozygous Parkin (PRKN) Variants and Penetrance of Parkinson's Disease Risk Markers in the Population-Based CHRIS Cohort von Castelo Rueda, Maria Paulina, Raftopoulou, Athina, Gögele, Martin, Borsche, Max, Emmert, David, Fuchsberger, Christian, Hantikainen, Essi M., Vukovic, Vladimir, Klein, Christine, Pramstaller, Peter P., Pichler, Irene, Hicks, Andrew A.

“… Mutations in the Parkin ( PRKN ) gene are the most frequent cause of autosomal recessive early-onset Parkinson's disease (PD). Heterozygous PRKN mutation …”
Volltext

Putative Prostate Cancer Risk SNP in an Androgen Receptor-Binding Site of the Melanophilin Gene Illustrates Enrichment of Risk SNPs in Androgen Receptor Target Sites von Bu, Huajie, Narisu, Narisu, Schlick, Bettina, Rainer, Johannes, Manke, Thomas, Schäfer, Georg, Pasqualini, Lorenza, Chines, Peter, Schweiger, Michal R., Fuchsberger, Christian, Klocker, Helmut

“… ABSTRACT Genome‐wide association studies have identified genomic loci, whose single‐nucleotide polymorphisms (SNPs) predispose to prostate cancer (PCa) …”
Volltext

Using Two-Sample Mendelian Randomization to Identify Potential Drug Targets: The Case of Desmoplakin von Foco, Luisa, De Bortoli, Marzia, Del Greco, M Fabiola, Frommelt Laura Sophie, Laura Sophie, Volani, Chiara, Riekschnitz, Diana Anna, Motta, Benedetta Maria, Fuchsberger, Christian, Völker, Uwe, Gögele, Martin, Dörr, Marcus, Teumer, Alexander, Pramstaller, Peter Paul, Rossini, Alessandra, Pattaro, Cristian

“… BACKGROUND Two-sample Mendelian randomization (2SMR) is a powerful tool for causal hypothesis testing. However, the simplicity of the statistical techniques …”
Volltext