Suchergebnisse - "Abecasis, Gonçalo R"

Unified representation of genetic variants von Tan, Adrian, Abecasis, Gonçalo R., Kang, Hyun Min

“… A genetic variant can be represented in the Variant Call Format (VCF) in multiple different ways. Inconsistent representation of variants between variant …”
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METAL: fast and efficient meta-analysis of genomewide association scans von Willer, Cristen J., Li, Yun, Abecasis, Gonçalo R.

“… METAL provides a computationally efficient tool for meta-analysis of genome-wide association scans, which is a commonly used approach for improving power …”
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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 …”
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An efficient and scalable analysis framework for variant extraction and refinement from population-scale DNA sequence data von Jun, Goo, Wing, Mary Kate, Abecasis, Gonçalo R, Kang, Hyun Min

“… The analysis of next-generation sequencing data is computationally and statistically challenging because of the massive volume of data and imperfect data …”
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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 …”
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Genotype Imputation from Large Reference Panels von Das, Sayantan, Abecasis, Gonçalo R, Browning, Brian L

“… Genotype imputation has become a standard tool in genome-wide association studies because it enables researchers to inexpensively approximate whole-genome …”
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LocusZoom.js: interactive and embeddable visualization of genetic association study results von Boughton, Andrew P, Welch, Ryan P, Flickinger, Matthew, VandeHaar, Peter, Taliun, Daniel, Abecasis, Gonçalo R, Boehnke, Michael

“… LocusZoom.js is a JavaScript library for creating interactive web-based visualizations of genetic association study results. It can display one or more traits …”
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MaCH: using sequence and genotype data to estimate haplotypes and unobserved genotypes von Li, Yun, Willer, Cristen J., Ding, Jun, Scheet, Paul, Abecasis, Gonçalo R.

“… Genome‐wide association studies (GWAS) can identify common alleles that contribute to complex disease susceptibility. Despite the large number of SNPs assessed …”
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Age-related macular degeneration: genetics and biology coming together von Fritsche, Lars G, Fariss, Robert N, Stambolian, Dwight, Abecasis, Gonçalo R, Curcio, Christine A, Swaroop, Anand

“… Genetic and genomic studies have enhanced our understanding of complex neurodegenerative diseases that exert a devastating impact on individuals and society …”
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LocusZoom: regional visualization of genome-wide association scan results von Pruim, Randall J., Welch, Ryan P., Sanna, Serena, Teslovich, Tanya M., Chines, Peter S., Gliedt, Terry P., Boehnke, Michael, Abecasis, Gonçalo R., Willer, Cristen J.

“… Genome-wide association studies (GWAS) have revealed hundreds of loci associated with common human genetic diseases and traits. We have developed a web-based …”
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Complex genetic signatures in immune cells underlie autoimmunity and inform therapy von Orrù, Valeria, Steri, Maristella, Sidore, Carlo, Marongiu, Michele, Serra, Valentina, Olla, Stefania, Sole, Gabriella, Lai, Sandra, Dei, Mariano, Mulas, Antonella, Virdis, Francesca, Piras, Maria Grazia, Lobina, Monia, Marongiu, Mara, Pitzalis, Maristella, Deidda, Francesca, Loizedda, Annalisa, Onano, Stefano, Zoledziewska, Magdalena, Sawcer, Stephen, Devoto, Marcella, Gorospe, Myriam, Abecasis, Gonçalo R., Floris, Matteo, Pala, Mauro, Schlessinger, David, Fiorillo, Edoardo, Cucca, Francesco

“… We report on the influence of ~22 million variants on 731 immune cell traits in a cohort of 3,757 Sardinians. We detected 122 significant ( P  < 1.28 × 10 −11 …”
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Improved ancestry estimation for both genotyping and sequencing data using projection procrustes analysis and genotype imputation von Wang, Chaolong, Zhan, Xiaowei, Liang, Liming, Abecasis, Gonçalo R, Lin, Xihong

“… Accurate estimation of individual ancestry is important in genetic association studies, especially when a large number of samples are collected from multiple …”
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Low-coverage sequencing: implications for design of complex trait association studies von Li, Yun, Sidore, Carlo, Kang, Hyun Min, Boehnke, Michael, Abecasis, Gonçalo R

“… New sequencing technologies allow genomic variation to be surveyed in much greater detail than previously possible. While detailed analysis of a single …”
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Family-based association tests for genomewide association scans von Chen, Wei-Min, Abecasis, Goncalo R

“… With millions of single-nucleotide polymorphisms (SNPs) identified and characterized, genomewide association studies have begun to identify susceptibility …”
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Next-generation genotype imputation service and methods von Das, Sayantan, Forer, Lukas, Schönherr, Sebastian, Sidore, Carlo, Locke, Adam E, Kwong, Alan, Vrieze, Scott I, Chew, Emily Y, Levy, Shawn, McGue, Matt, Schlessinger, David, Stambolian, Dwight, Loh, Po-Ru, Iacono, William G, Swaroop, Anand, Scott, Laura J, Cucca, Francesco, Kronenberg, Florian, Boehnke, Michael, Abecasis, Gonçalo R, Fuchsberger, Christian

“… Christian Fuchsberger, Gonçalo Abecasis and colleagues describe a new web-based imputation service that enables rapid imputation of large numbers of samples …”
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Exploring and visualizing large-scale genetic associations by using PheWeb von Gagliano Taliun, Sarah A., VandeHaar, Peter, Boughton, Andrew P., Welch, Ryan P., Taliun, Daniel, Schmidt, Ellen M., Zhou, Wei, Nielsen, Jonas B., Willer, Cristen J., Lee, Seunggeun, Fritsche, Lars G., Boehnke, Michael, Abecasis, Gonçalo R.

“… The ability of investigators to explore their own data by alternating between these two view types, is an increasingly common feature of large-scale …”
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Genome-wide association studies for complex traits: consensus, uncertainty and challenges von McCarthy, Mark I., Abecasis, Gonçalo R., Cardon, Lon R., Goldstein, David B., Little, Julian, Ioannidis, John P. A., Hirschhorn, Joel N.

“… Key Points Genome-wide association studies are systematic, well-powered surveys to explore the relationships between sites of common genome sequence variation …”
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Detecting and estimating contamination of human DNA samples in sequencing and array-based genotype data von Jun, Goo, Flickinger, Matthew, Hetrick, Kurt N, Romm, Jane M, Doheny, Kimberly F, Abecasis, Gonçalo R, Boehnke, Michael, Kang, Hyun Min

“… DNA sample contamination is a serious problem in DNA sequencing studies and may result in systematic genotype misclassification and false positive …”
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Association of Polygenic Risk Scores for Multiple Cancers in a Phenome-wide Study: Results from The Michigan Genomics Initiative von Fritsche, Lars G, Gruber, Stephen B, Wu, Zhenke, Schmidt, Ellen M, Zawistowski, Matthew, Moser, Stephanie E, Blanc, Victoria M, Brummett, Chad M, Kheterpal, Sachin, Abecasis, Gonçalo R, Mukherjee, Bhramar

“… Health systems are stewards of patient electronic health record (EHR) data with extraordinarily rich depth and breadth, reflecting thousands of diagnoses and …”
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Genome sequencing elucidates Sardinian genetic architecture and augments association analyses for lipid and blood inflammatory markers von Sidore, Carlo, Busonero, Fabio, Maschio, Andrea, Porcu, Eleonora, Naitza, Silvia, Zoledziewska, Magdalena, Mulas, Antonella, Pistis, Giorgio, Steri, Maristella, Danjou, Fabrice, Kwong, Alan, Ortega del Vecchyo, Vicente Diego, Chiang, Charleston W K, Bragg-Gresham, Jennifer, Pitzalis, Maristella, Nagaraja, Ramaiah, Tarrier, Brendan, Brennan, Christine, Uzzau, Sergio, Fuchsberger, Christian, Atzeni, Rossano, Reinier, Frederic, Berutti, Riccardo, Huang, Jie, Timpson, Nicholas J, Toniolo, Daniela, Gasparini, Paolo, Malerba, Giovanni, Dedoussis, George, Zeggini, Eleftheria, Soranzo, Nicole, Jones, Chris, Lyons, Robert, Angius, Andrea, Kang, Hyun M, Novembre, John, Sanna, Serena, Schlessinger, David, Cucca, Francesco, Abecasis, Gonçalo R

“… Gonçalo Abecasis, Francesco Cucca, David Schlessinger, Serena Sanna and colleagues report ~17.6 million genetic variants from whole-genome sequencing of 2,120 …”
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