Discovery and genotyping of genome structural polymorphism by sequencing on a population scale

nork Handsaker, Robert E., Korn, Joshua M., Nemesh, James, McCarroll, Steven A.
Argitaratua izan da Nat Genet (2011)

Structural haplotypes and recent evolution of the human 17q21.31 region

nork Boettger, Linda M., Handsaker, Robert E., Zody, Michael C., McCarroll, Steven A.
Argitaratua 2012

Mapping the Human Reference Genome’s Missing Sequence by Three-Way Admixture in Latino Genomes

nork Genovese, Giulio, Handsaker, Robert E., Li, Heng, Kenny, Eimear E., McCarroll, Steven A.
Argitaratua 2013

Genetic variation in human DNA replication timing

nork Koren, Amnon, Handsaker, Robert E., Kamitaki, Nolan, Karlić, Rosa, Ghosh, Sulagna, Polak, Paz, Eggan, Kevin, McCarroll, Steven A.
Argitaratua izan da Cell (2014)

Recurring exon deletions in the haptoglobin (HP) gene associate with lower blood cholesterol levels

nork Boettger, Linda M., Salem, Rany M., Handsaker, Robert E., Peloso, Gina, Kathiresan, Sekar, Hirschhorn, Joel, McCarroll, Steven A.
Argitaratua izan da Nat Genet (2016)

Large multi-allelic copy number variations in humans

nork Handsaker, Robert E., Van Doren, Vanessa, Berman, Jennifer R., Genovese, Giulio, Kashin, Seva, Boettger, Linda M., McCarroll, Steven A.
Argitaratua izan da Nat Genet (2015)

SNAP: a web-based tool for identification and annotation of proxy SNPs using HapMap

nork Johnson, Andrew D., Handsaker, Robert E., Pulit, Sara L., Nizzari, Marcia M., O'Donnell, Christopher J., de Bakker, Paul I. W.
Argitaratua 2008

Protein-coding repeat polymorphisms strongly shape diverse human phenotypes

nork Mukamel, Ronen E, Handsaker, Robert E, Sherman, Maxwell A, Barton, Alison R, Zheng, Yiming, McCarroll, Steven A, Loh, Po-Ru
Argitaratua izan da bioRxiv (2021)

The variant call format and VCFtools

nork 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
Argitaratua 2011

Insights about clonal hematopoiesis from 8,342 mosaic chromosomal alterations

nork 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
Argitaratua izan da Nature (2018)

Using population admixture to help complete maps of the human genome

nork 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.
Argitaratua 2013

Human pluripotent stem cells recurrently acquire and expand dominant negative P53 mutations

nork 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
Argitaratua izan da Nature (2017)

A whole-genome sequence study identifies genetic risk factors for neuromyelitis optica

nork 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.
Argitaratua izan da Nat Commun (2018)

Discovery and Statistical Genotyping of Copy-Number Variation from Whole-Exome Sequencing Depth

nork 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.
Argitaratua 2012

GenomeVIP: a cloud platform for genomic variant discovery and interpretation

nork 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
Argitaratua izan da Genome Res (2017)

Schizophrenia risk from complex variation of complement component 4

nork Sekar, Aswin, Bialas, Allison R., de Rivera, Heather, Davis, Avery, Hammond, Timothy R., Kamitaki, Nolan, Tooley, Katherine, Presumey, Jessy, Baum, Matthew, Van Doren, Vanessa, Genovese, Giulio, Rose, Samuel A., Handsaker, Robert E., Daly, Mark J., Carroll, Michael C., Stevens, Beth, McCarroll, Steven A.
Argitaratua izan da Nature (2016)

Structural forms of the human amylase locus and their relationships to SNPs, haplotypes, and obesity

nork Usher, Christina L, Handsaker, Robert E, Esko, Tõnu, Tuke, Marcus A, Weedon, Michael N, Hastie, Alex R, Cao, Han, Moon, Jennifer E, Kashin, Seva, Fuchsberger, Christian, Metspalu, Andres, Pato, Carlos N, Pato, Michele T, McCarthy, Mark I, Boehnke, Michael, Altshuler, David M, Frayling, Timothy M, Hirschhorn, Joel N, McCarroll, Steven A
Argitaratua izan da Nat Genet (2015)

Clonal Hematopoiesis and Blood-Cancer Risk Inferred from Blood DNA Sequence

nork 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.
Argitaratua izan da N Engl J Med (2014)

Complement genes contribute sex-biased vulnerability in diverse illnesses

nork Kamitaki, Nolan, Sekar, Aswin, Handsaker, Robert E., de Rivera, Heather, Tooley, Katherine, Morris, David L., Taylor, Kimberly E., Whelan, Christopher W., Tombleson, Philip, Loohuis, Loes M. Olde, Boehnke, Michael, Kimberly, Robert P., Kaufman, Kenneth M., Harley, John B., Langefeld, Carl D., Seidman, Christine E., Pato, Michele T., Pato, Carlos N., Ophoff, Roel A., Graham, Robert R., Criswell, Lindsey A., Vyse, Timothy J., McCarroll, Steven A.
Argitaratua izan da Nature (2020)

Pathways Disrupted in Human ALS Motor Neurons Identified Through Genetic Correction of Mutant SOD1

nork Kiskinis, Evangelos, Sandoe, Jackson, Williams, Luis A., Boulting, Gabriella L., Moccia, Rob, Wainger, Brian J., Han, Steve, Peng, Theodore, Thams, Sebastian, Mikkilineni, Shravani, Mellin, Cassidy, Merkle, Florian T., Davis-Dusenbery, Brandi N., Ziller, Michael, Oakley, Derek, Ichida, Justin, Dicostanza, Stefania, Atwater, Nick, Maeder, Morgan L., Goodwin, Mathew J., Nemesh, James, Handsaker, Robert E., Paull, Daniel, Noggle, Scott, McCarroll, Steven A., Joung, J. Keith, Woolf, Clifford J., Brown, Robert H, Eggan, Kevin
Argitaratua izan da Cell Stem Cell (2014)