Now showing items 21-29 of 29

    • Mapping Copy Number Variation by Population Scale Genome Sequencing 

      Mills, Ryan Edward; Handsaker, Robert E; Korn, Joshua; Nemesh, James; Shi, Xinghua; Lee, Charles; McCarroll, Steven A.; Altshuler, David Matthew; Gabriel, Stacey B.; Lander, Eric Steven; Ambrogio, Lauren; Bloom, Toby; Cibulskis, Kristian; Fennell, Tim J.; Jaffe, David B.; Shefler, Erica; Sougnez, Carrie L.; Daly, Mark Joseph; DePristo, Mark A.; Ball, Aaron D.; Banks, Eric; Bloom, Toby; Browning, Brian L.; Garimella, Kiran V.; Grossman, Sharon Rachel; Handsaker, Robert E; Hanna, Matt; Hartl, Chris; Kernytsky, Andrew M.; Li, Heng; Maguire, Jared R.; McKenna, Aaron; Philippakis, Anthony Andrew; Poplin, Ryan E.; Price, Alkes; Rivas, Manuel A.; Sabeti, Pardis Christine; Schaffner, Stephen; Shlyakhter, Ilya; DePristo, Mark A.; Wilkinson, Jane (Nature Publishing Group, 2011)
      Genomic structural variants (SVs) are abundant in humans, differing from other forms of variation in extent, origin and functional impact. Despite progress in SV characterization, the nucleotide resolution architecture of ...
    • Partitioning heritability by functional annotation using genome-wide association summary statistics 

      Finucane, Hilary K.; Bulik-Sullivan, Brendan; Gusev, Alexander; Trynka, Gosia; Reshef, Yakir; Loh, Po-Ru; Anttila, Verneri; Xu, Han; Zang, Chongzhi; Farh, Kyle; Ripke, Stephan; Day, Felix R.; Consortium, ReproGen; Purcell, Shaun; Stahl, Eli; Lindstrom, Sara; Perry, John R. B.; Okada, Yukinori; Raychaudhuri, Soumya; Daly, Mark; Patterson, Nick; Neale, Benjamin M.; Price, Alkes L. (2015)
      Recent work has demonstrated that some functional categories of the genome contribute disproportionately to the heritability of complex diseases. Here, we analyze a broad set of functional elements, including cell-type-specific ...
    • Patterns of \(Cis\) Regulatory Variation in Diverse Human Populations 

      Montgomery, Stephen B.; Dimas, Antigone S.; Parts, Leopold; Stegle, Oliver; Ingle, Catherine E.; Sekowska, Magda; Gutierrez-Arcelus, Maria; Nisbett, James; Nica, Alexandra C.; Beazley, Claude; Durbin, Richard; Deloukas, Panos; Dermitzakis, Emmanouil T.; Stranger, Barbara Elaine; Smith, George W.; Price, Alkes; Raj, Towfique (Public Library of Science, 2012)
      The genetic basis of gene expression variation has long been studied with the aim to understand the landscape of regulatory variants, but also more recently to assist in the interpretation and elucidation of disease signals. ...
    • Population Structure and Eigenanalysis 

      Patterson, Nick; Price, Alkes; Reich, David Emil (Public Library of Science, 2006)
      Current methods for inferring population structure from genetic data do not provide formal significance tests for population differentiation. We discuss an approach to studying population structure (principal components ...
    • Progress and promise in understanding the genetic basis of common diseases 

      Price, Alkes L.; Spencer, Chris C. A.; Donnelly, Peter (The Royal Society, 2015)
      Susceptibility to common human diseases is influenced by both genetic and environmental factors. The explosive growth of genetic data, and the knowledge that it is generating, are transforming our biological understanding ...
    • Quantifying Missing Heritability at Known GWAS Loci 

      Gusev, Alexander; Bhatia, Gaurav; Zaitlen, Noah; Vilhjalmsson, Bjarni J.; Diogo, Dorothée; Stahl, Eli A.; Gregersen, Peter K.; Worthington, Jane; Klareskog, Lars; Raychaudhuri, Soumya; Plenge, Robert M.; Pasaniuc, Bogdan; Price, Alkes L. (Public Library of Science, 2013)
      Recent work has shown that much of the missing heritability of complex traits can be resolved by estimates of heritability explained by all genotyped SNPs. However, it is currently unknown how much heritability is missing ...
    • Reconstructing Native American Population History 

      Reich, David Emil; Patterson, Nick; Campbell, Desmond; Tandon, Arti; Mazieres, Stéphane; Ray, Nicolas; Parra, Maria V.; Rojas, Winston; Duque, Constanza; Mesa, Natalia; García, Luis F.; Triana, Omar; Blair, Silvia; Maestre, Amanda; Dib, Juan C.; Bravi, Claudio M.; Bailliet, Graciela; Corach, Daniel; Hünemeier, Tábita; Bortolini, Maria-Cátira; Salzano, Francisco M.; Petzl-Erler, María Luiza; Acuña-Alonzo, Victor; Aguilar-Salinas, Carlos; Canizales-Quinteros, Samuel; Tusié-Luna, Teresa; Riba, Laura; Rodríguez-Cruz, Maricela; Lopez-Alarcón, Mardia; Coral-Vazquez, Ramón; Canto-Cetina, Thelma; Silva-Zolezzi, Irma; Fernandez-Lopez, Juan Carlos; Contreras, Alejandra V.; Jimenez-Sanchez, Gerardo; Gómez-Vázquez, María José; Molina, Julio; Carracedo, Ángel; Salas, Antonio; Gallo, Carla; Poletti, Giovanni; Witonsky, David B.; Alkorta-Aranburu, Gorka; Sukernik, Rem I.; Osipova, Ludmila; Fedorova, Sardana; Vasquez, René; Villena, Mercedes; Moreau, Claudia; Barrantes, Ramiro; Pauls, David L.; Excoffier, Laurent; Bedoya, Gabriel; Rothhammer, Francisco; Dugoujon, Jean Michel; Larrouy, Georges; Klitz, William; Labuda, Damian; Kidd, Judith; Kidd, Kenneth; Rienzo, Anna Di; Freimer, Nelson B.; Price, Alkes; Ruiz-Linares, Andrés (2013)
      The peopling of the Americas has been the subject of extensive genetic, archaeological and linguistic research; however, central questions remain unresolved1–5. One contentious issue is whether the settlement occurred via ...
    • Sensitive Detection of Chromosomal Segments of Distinct Ancestry in Admixed Populations 

      Price, Alkes; Tandon, Arti; Patterson, Nick; Barnes, Kathleen C.; Rafaels, Nicholas; Ruczinski, Ingo; Beaty, Terri H.; Mathias, Rasika; Reich, David Emil; Myers, Simon (Public Library of Science, 2009)
      Identifying the ancestry of chromosomal segments of distinct ancestry has a wide range of applications from disease mapping to learning about history. Most methods require the use of unlinked markers; but, using all markers ...
    • Using population admixture to help complete maps of the human genome 

      Genovese, Giulio; Handsaker, Robert E.; Li, Heng; Altemose, Nicolas; Lindgren, Amelia M.; Chambert, Kimberly; Pasaniuc, Bogdan; Price, Alkes L.; Reich, David; Morton, Cynthia C.; Pollak, Martin R.; Wilson, James G.; McCarroll, Steven A. (2013)
      Tens of millions of base pairs of euchromatic human genome sequence, including many protein-coding genes, have no known location in the human genome. We describe an approach for localizing the human genome's missing pieces ...