Resultados de procura - Handsaker, Robert E

Discovery and genotyping of genome structural polymorphism by sequencing on a population scale por Handsaker, Robert E., Korn, Joshua M., Nemesh, James, McCarroll, Steven A.

Ligazón do recurso Ligazón do recurso Ligazón do recurso

Structural haplotypes and recent evolution of the human 17q21.31 region por Boettger, Linda M., Handsaker, Robert E., Zody, Michael C., McCarroll, Steven A.

Ligazón do recurso Ligazón do recurso Ligazón do recurso

Mapping the Human Reference Genome’s Missing Sequence by Three-Way Admixture in Latino Genomes por Genovese, Giulio, Handsaker, Robert E., Li, Heng, Kenny, Eimear E., McCarroll, Steven A.

Ligazón do recurso Ligazón do recurso Ligazón do recurso

Genetic variation in human DNA replication timing por Koren, Amnon, Handsaker, Robert E., Kamitaki, Nolan, Karlić, Rosa, Ghosh, Sulagna, Polak, Paz, Eggan, Kevin, McCarroll, Steven A.

Ligazón do recurso Ligazón do recurso Ligazón do recurso

Recurring exon deletions in the haptoglobin (HP) gene associate with lower blood cholesterol levels por Boettger, Linda M., Salem, Rany M., Handsaker, Robert E., Peloso, Gina, Kathiresan, Sekar, Hirschhorn, Joel, McCarroll, Steven A.

Ligazón do recurso Ligazón do recurso Ligazón do recurso

Large multi-allelic copy number variations in humans por Handsaker, Robert E., Van Doren, Vanessa, Berman, Jennifer R., Genovese, Giulio, Kashin, Seva, Boettger, Linda M., McCarroll, Steven A.

Ligazón do recurso Ligazón do recurso Ligazón do recurso

SNAP: a web-based tool for identification and annotation of proxy SNPs using HapMap por Johnson, Andrew D., Handsaker, Robert E., Pulit, Sara L., Nizzari, Marcia M., O'Donnell, Christopher J., de Bakker, Paul I. W.

Ligazón do recurso Ligazón do recurso Ligazón do recurso

Protein-coding repeat polymorphisms strongly shape diverse human phenotypes por Mukamel, Ronen E, Handsaker, Robert E, Sherman, Maxwell A, Barton, Alison R, Zheng, Yiming, McCarroll, Steven A, Loh, Po-Ru

Ligazón do recurso Ligazón do recurso Ligazón do recurso

Protein-coding repeat polymorphisms strongly shape diverse human phenotypes() por Mukamel, Ronen E., Handsaker, Robert E., Sherman, Maxwell A., Barton, Alison R., Zheng, Yiming, McCarroll, Steven A., Loh, Po-Ru

Ligazón do recurso Ligazón do recurso Ligazón do recurso

Chromosomal phase improves aneuploidy detection in non-invasive prenatal testing at low fetal DNA fractions por Genovese, Giulio, Mello, Curtis J., Loh, Po-Ru, Handsaker, Robert E., Kashin, Seva, Whelan, Christopher W., Bayer-Zwirello, Lucy A., McCarroll, Steven A.

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The variant call format and VCFtools por Danecek, Petr, Auton, Adam, Abecasis, Goncalo, Albers, Cornelis A., Banks, Eric, DePristo, Mark A., Handsaker, Robert E., Lunter, Gerton, Marth, Gabor T., Sherry, Stephen T., McVean, Gilean, Durbin, Richard

Ligazón do recurso Ligazón do recurso Ligazón do recurso

Insights about clonal hematopoiesis from 8,342 mosaic chromosomal alterations por Loh, Po-Ru, Genovese, Giulio, Handsaker, Robert E, Finucane, Hilary K, Reshef, Yakir A, Palamara, Pier Francesco, Birmann, Brenda M, Talkowski, Michael E, Bakhoum, Samuel F, McCarroll, Steven A, Price, Alkes L

Ligazón do recurso Ligazón do recurso Ligazón do recurso

Whole-genome analysis of human embryonic stem cells enables rational line selection based on genetic variation por Merkle, Florian T., Ghosh, Sulagna, Genovese, Giulio, Handsaker, Robert E., Kashin, Seva, Meyer, Daniel, Karczewski, Konrad J., O’Dushlaine, Colm, Pato, Carlos, Pato, Michele, MacArthur, Daniel G., McCarroll, Steven A., Eggan, Kevin

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Using population admixture to help complete maps of the human genome por 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.

Ligazón do recurso Ligazón do recurso Ligazón do recurso

Human pluripotent stem cells recurrently acquire and expand dominant negative P53 mutations por Merkle, Florian T., Ghosh, Sulagna, Kamitaki, Nolan, Mitchell, Jana, Avior, Yishai, Mello, Curtis, Kashin, Seva, Mekhoubad, Shila, Ilic, Dusko, Charlton, Maura, Saphier, Genevieve, Handsaker, Robert E., Genovese, Giulio, Bar, Shiran, Benvenisty, Nissim, McCarroll, Steven A., Eggan, Kevin

Ligazón do recurso Ligazón do recurso Ligazón do recurso

A whole-genome sequence study identifies genetic risk factors for neuromyelitis optica por Estrada, Karol, Whelan, Christopher W., Zhao, Fengmei, Bronson, Paola, Handsaker, Robert E., Sun, Chao, Carulli, John P., Harris, Tim, Ransohoff, Richard M., McCarroll, Steven A., Day-Williams, Aaron G., Greenberg, Benjamin M., MacArthur, Daniel G.

Ligazón do recurso Ligazón do recurso Ligazón do recurso

Discovery and Statistical Genotyping of Copy-Number Variation from Whole-Exome Sequencing Depth por Fromer, Menachem, Moran, Jennifer L., Chambert, Kimberly, Banks, Eric, Bergen, Sarah E., Ruderfer, Douglas M., Handsaker, Robert E., McCarroll, Steven A., O’Donovan, Michael C., Owen, Michael J., Kirov, George, Sullivan, Patrick F., Hultman, Christina M., Sklar, Pamela, Purcell, Shaun M.

Ligazón do recurso Ligazón do recurso Ligazón do recurso

GenomeVIP: a cloud platform for genomic variant discovery and interpretation por Mashl, R. Jay, Scott, Adam D., Huang, Kuan-lin, Wyczalkowski, Matthew A., Yoon, Christopher J., Niu, Beifang, DeNardo, Erin, Yellapantula, Venkata D., Handsaker, Robert E., Chen, Ken, Koboldt, Daniel C., Ye, Kai, Fenyö, David, Raphael, Benjamin J., Wendl, Michael C., Ding, Li

Ligazón do recurso Ligazón do recurso Ligazón do recurso

The genetic architecture of DNA replication timing in human pluripotent stem cells por Ding, Qiliang, Edwards, Matthew M., Wang, Ning, Zhu, Xiang, Bracci, Alexa N., Hulke, Michelle L., Hu, Ya, Tong, Yao, Hsiao, Joyce, Charvet, Christine J., Ghosh, Sulagna, Handsaker, Robert E., Eggan, Kevin, Merkle, Florian T., Gerhardt, Jeannine, Egli, Dieter, Clark, Andrew G., Koren, Amnon

Ligazón do recurso Ligazón do recurso Ligazón do recurso

Clonal Hematopoiesis and Blood-Cancer Risk Inferred from Blood DNA Sequence por Genovese, Giulio, Kähler, Anna K., Handsaker, Robert E., Lindberg, Johan, Rose, Samuel A., Bakhoum, Samuel F., Chambert, Kimberly, Mick, Eran, Neale, Benjamin M., Fromer, Menachem, Purcell, Shaun M., Svantesson, Oscar, Landén, Mikael, Höglund, Martin, Lehmann, Sören, Gabriel, Stacey B., Moran, Jennifer L., Lander, Eric S., Sullivan, Patrick F., Sklar, Pamela, Grönberg, Henrik, Hultman, Christina M., McCarroll, Steven A.

Ligazón do recurso Ligazón do recurso Ligazón do recurso