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.
Publicado 2011

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.
Publicado 2016

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.
Publicado 2015

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.
Publicado 2022

Hidden protein-altering variants influence diverse human phenotypes

por Hujoel, Margaux L.A., Handsaker, Robert E., Sherman, Maxwell A., Kamitaki, Nolan, Barton, Alison R., Mukamel, Ronen E., Terao, Chikashi, McCarroll, Steven A., Loh, Po-Ru
Publicado 2023

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
Publicado 2011

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
Publicado 2018

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
Publicado 2022

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.
Publicado 2013

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
Publicado 2017

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.
Publicado 2018

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
Publicado 2017

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
Publicado 2021

Schizophrenia risk from complex variation of complement component 4

por 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.
Publicado 2016

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

por 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
Publicado 2015

Complement genes contribute sex-biased vulnerability in diverse illnesses

por 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.
Publicado 2020

Common α-globin variants modify hematologic and other clinical phenotypes in sickle cell trait and disease

por Raffield, Laura M., Ulirsch, Jacob C., Naik, Rakhi P., Lessard, Samuel, Handsaker, Robert E., Jain, Deepti, Kang, Hyun M., Pankratz, Nathan, Auer, Paul L., Bao, Erik L., Smith, Joshua D., Lange, Leslie A., Lange, Ethan M., Li, Yun, Thornton, Timothy A., Young, Bessie A., Abecasis, Goncalo R., Laurie, Cathy C., Nickerson, Deborah A., McCarroll, Steven A., Correa, Adolfo, Wilson, James G., Lettre, Guillaume, Sankaran, Vijay G., Reiner, Alex P.
Publicado 2018

Ultra-rare disruptive and damaging mutations influence educational attainment in the general population

por Ganna, Andrea, Genovese, Giulio, Howrigan, Daniel P., Byrnes, Andrea, Kurki, Mitja, Zekavat, Seyedeh M., Whelan, Christopher W., Kals, Mart, Nivard, Michel G., Bloemendal, Alex, Bloom, Jonathan M., Goldstein, Jacqueline I., Poterba, Timothy, Seed, Cotton, Handsaker, Robert E., Natarajan, Pradeep, Mägi, Reedik, Gage, Diane, Robinson, Elise B., Metspalu, Andres, Salomaa, Veikko, Suvisaari, Jaana, Purcell, Shaun M., Sklar, Pamela, Kathiresan, Sekar, Daly, Mark J., McCarroll, Steven A., Sullivan, Patrick F., Palotie, Aarno, Esko, Tõnu, Hultman, Christina, Neale, Benjamin M.
Publicado 2016

Characteristics of de novo structural changes in the human genome

por Kloosterman, Wigard P., Francioli, Laurent C., Hormozdiari, Fereydoun, Marschall, Tobias, Hehir-Kwa, Jayne Y., Abdellaoui, Abdel, Lameijer, Eric-Wubbo, Moed, Matthijs H., Koval, Vyacheslav, Renkens, Ivo, van Roosmalen, Markus J., Arp, Pascal, Karssen, Lennart C., Coe, Bradley P., Handsaker, Robert E., Suchiman, Eka D., Cuppen, Edwin, Thung, Djie Tjwan, McVey, Mitch, Wendl, Michael C., Uitterlinden, André, van Duijn, Cornelia M., Swertz, Morris A., Wijmenga, Cisca, van Ommen, GertJan B., Slagboom, P. Eline, Boomsma, Dorret I., Schönhuth, Alexander, Eichler, Evan E., de Bakker, Paul I.W., Ye, Kai, Guryev, Victor
Publicado 2015

Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries

por Zekavat, Seyedeh M., Ruotsalainen, Sanni, Handsaker, Robert E., Alver, Maris, Bloom, Jonathan, Poterba, Timothy, Seed, Cotton, Ernst, Jason, Chaffin, Mark, Engreitz, Jesse, Peloso, Gina M., Manichaikul, Ani, Yang, Chaojie, Ryan, Kathleen A., Fu, Mao, Johnson, W. Craig, Tsai, Michael, Budoff, Matthew, Vasan, Ramachandran S., Cupples, L. Adrienne, Rotter, Jerome I., Rich, Stephen S., Post, Wendy, Mitchell, Braxton D., Correa, Adolfo, Metspalu, Andres, Wilson, James G., Salomaa, Veikko, Kellis, Manolis, Daly, Mark J., Neale, Benjamin M., McCarroll, Steven, Surakka, Ida, Esko, Tonu, Ganna, Andrea, Ripatti, Samuli, Kathiresan, Sekar, Natarajan, Pradeep
Publicado 2018