Case-control association testing by graphical modeling for the Genetic Analysis Workshop 17 mini-exome sequence data

por Abel, Haley J, Thomas, Alun
Publicado 2011

SVScore: an impact prediction tool for structural variation

por Ganel, Liron, Abel, Haley J, Hall, Ira M
Publicado 2017

svtools: population-scale analysis of structural variation

por Larson, David E, Abel, Haley J, Chiang, Colby, Badve, Abhijit, Das, Indraniel, Eldred, James M, Layer, Ryan M, Hall, Ira M
Publicado 2019

Somatic Dnmt3a inactivation leads to slow, canonical DNA methylation loss in murine hematopoietic cells

por Smith, Amanda M., Verdoni, Angela M., Abel, Haley J., Chen, David Y., Ketkar, Shamika, Leight, Elizabeth R., Miller, Christopher A., Ley, Timothy J.
Publicado 2022

Persistent Molecular Disease in Adult Patients With AML Evaluated With Whole-Exome and Targeted Error-Corrected DNA Sequencing

por Slade, Michael J., Ghasemi, Reza, O'Laughlin, Michelle, Burton, Tasha, Fulton, Robert S., Abel, Haley J., Duncavage, Eric J., Ley, Timothy J., Jacoby, Meagan A., Spencer, David H.
Publicado 2023

Candidate gene resequencing to identify rare, pedigree-specific variants influencing healthy aging phenotypes in the long life family study

por Druley, Todd E., Wang, Lihua, Lin, Shiow J., Lee, Joseph H., Zhang, Qunyuan, Daw, E. Warwick, Abel, Haley J., Chasnoff, Sara E., Ramos, Enrique I., Levinson, Benjamin T., Thyagarajan, Bharat, Newman, Anne B., Christensen, Kaare, Mayeux, Richard, Province, Michael A.
Publicado 2016

Mapping and characterization of structural variation in 17,795 human genomes

por Abel, Haley J., Larson, David E., Regier, Allison A., Chiang, Colby, Das, Indraniel, Kanchi, Krishna L., Layer, Ryan M., Neale, Benjamin M., Salerno, William J., Reeves, Catherine, Buyske, Steven, Matise, Tara C., Muzny, Donna M., Zody, Michael C., Lander, Eric S., Dutcher, Susan K., Stitziel, Nathan O., Hall, Ira M.
Publicado 2020

High-coverage whole-genome sequencing of the expanded 1000 Genomes Project cohort including 602 trios

por Byrska-Bishop, Marta, Evani, Uday S., Zhao, Xuefang, Basile, Anna O., Abel, Haley J., Regier, Allison A., Corvelo, André, Clarke, Wayne E., Musunuri, Rajeeva, Nagulapalli, Kshithija, Fairley, Susan, Runnels, Alexi, Winterkorn, Lara, Lowy, Ernesto, Paul Flicek, Germer, Soren, Brand, Harrison, Hall, Ira M., Talkowski, Michael E., Narzisi, Giuseppe, Zody, Michael C.
Publicado 2022

Functional and epigenetic phenotypes of humans and mice with DNMT3A Overgrowth Syndrome

por Smith, Amanda M., LaValle, Taylor A., Shinawi, Marwan, Ramakrishnan, Sai M., Abel, Haley J., Hill, Cheryl A., Kirkland, Nicole M., Rettig, Michael P., Helton, Nichole M., Heath, Sharon E., Ferraro, Francesca, Chen, David Y., Adak, Sangeeta, Semenkovich, Clay F., Christian, Diana L., Martin, Jenna R., Gabel, Harrison W., Miller, Christopher A., Ley, Timothy J.
Publicado 2021

Genomic landscape of TP53-mutated myeloid malignancies

por Abel, Haley J., Oetjen, Karolyn A., Miller, Christopher A., Ramakrishnan, Sai M., Day, Ryan B., Helton, Nichole M., Fronick, Catrina C., Fulton, Robert S., Heath, Sharon E., Tarnawsky, Stefan P., Nonavinkere Srivatsan, Sridhar, Duncavage, Eric J., Schroeder, Molly C., Payton, Jacqueline E., Spencer, David H., Walter, Matthew J., Westervelt, Peter, DiPersio, John F., Ley, Timothy J., Link, Daniel C.
Publicado 2023

Genomic landscape of TP53-mutated myeloid malignancies

por Abel, Haley J., Oetjen, Karolyn A., Miller, Christopher A., Ramakrishnan, Sai M., Day, Ryan B., Helton, Nichole M., Fronick, Catrina C., Fulton, Robert S., Heath, Sharon E., Tarnawsky, Stefan P., Srivatsan, Sridhar Nonavinkere, Duncavage, Eric J., Schroeder, Molly C., Payton, Jacqueline E., Spencer, David H., Walter, Matthew J., Westervelt, Peter, DiPersio, John F., Ley, Timothy J., Link, Daniel C.
Publicado 2023

Exome sequencing of Finnish isolates enhances rare-variant association power

por Locke, Adam E, Steinberg, Karyn Meltz, Chiang, Charleston WK, Service, Susan K, Havulinna, Aki S, Stell, Laurel, Pirinen, Matti, Abel, Haley J, Chiang, Colby C, Fulton, Robert S, Jackson, Anne U, Kang, Chul Joo, Kanchi, Krishna L, Koboldt, Daniel C, Larson, David E, Nelson, Joanne, Nicholas, Thomas J, Pietilä, Arto, Ramensky, Vasily, Ray, Debashree, Scott, Laura J, Stringham, Heather M, Vangipurapu, Jagadish, Welch, Ryan, Yajnik, Pranav, Yin, Xianyong, Eriksson, Johan G, Ala-Korpela, Mika, Järvelin, Marjo-Riitta, Männikkö, Minna, Laivuori, Hannele, Dutcher, Susan K, Stitziel, Nathan O, Wilson, Richard K, Hall, Ira M, Sabatti, Chiara, Palotie, Aarno, Salomaa, Veikko, Laakso, Markku, Ripatti, Samuli, Boehnke, Michael, Freimer, Nelson B
Publicado 2019

A draft human pangenome reference

por Liao, Wen-Wei, Asri, Mobin, Ebler, Jana, Doerr, Daniel, Haukness, Marina, Hickey, Glenn, Lu, Shuangjia, Lucas, Julian K., Monlong, Jean, Abel, Haley J., Buonaiuto, Silvia, Chang, Xian H., Cheng, Haoyu, Chu, Justin, Colonna, Vincenza, Eizenga, Jordan M., Feng, Xiaowen, Fischer, Christian, Fulton, Robert S., Garg, Shilpa, Groza, Cristian, Guarracino, Andrea, Harvey, William T., Heumos, Simon, Howe, Kerstin, Jain, Miten, Lu, Tsung-Yu, Markello, Charles, Martin, Fergal J., Mitchell, Matthew W., Munson, Katherine M., Mwaniki, Moses Njagi, Novak, Adam M., Olsen, Hugh E., Pesout, Trevor, Porubsky, David, Prins, Pjotr, Sibbesen, Jonas A., Sirén, Jouni, Tomlinson, Chad, Villani, Flavia, Vollger, Mitchell R., Antonacci-Fulton, Lucinda L., Baid, Gunjan, Baker, Carl A., Belyaeva, Anastasiya, Billis, Konstantinos, Carroll, Andrew, Chang, Pi-Chuan, Cody, Sarah, Cook, Daniel E., Cook-Deegan, Robert M., Cornejo, Omar E., Diekhans, Mark, Ebert, Peter, Fairley, Susan, Fedrigo, Olivier, Felsenfeld, Adam L., Formenti, Giulio, Frankish, Adam, Gao, Yan, Garrison, Nanibaa’ A., Giron, Carlos Garcia, Green, Richard E., Haggerty, Leanne, Hoekzema, Kendra, Hourlier, Thibaut, Ji, Hanlee P., Kenny, Eimear E., Koenig, Barbara A., Kolesnikov, Alexey, Korbel, Jan O., Kordosky, Jennifer, Koren, Sergey, Lee, HoJoon, Lewis, Alexandra P., Magalhães, Hugo, Marco-Sola, Santiago, Marijon, Pierre, McCartney, Ann, McDaniel, Jennifer, Mountcastle, Jacquelyn, Nattestad, Maria, Nurk, Sergey, Olson, Nathan D., Popejoy, Alice B., Puiu, Daniela, Rautiainen, Mikko, Regier, Allison A., Rhie, Arang, Sacco, Samuel, Sanders, Ashley D., Schneider, Valerie A., Schultz, Baergen I., Shafin, Kishwar, Smith, Michael W., Sofia, Heidi J., Abou Tayoun, Ahmad N., Thibaud-Nissen, Françoise, Tricomi, Francesca Floriana, Wagner, Justin, Walenz, Brian, Wood, Jonathan M. D., Zimin, Aleksey V., Bourque, Guillaume, Chaisson, Mark J. P., Flicek, Paul, Phillippy, Adam M., Zook, Justin M., Eichler, Evan E., Haussler, David, Wang, Ting, Jarvis, Erich D., Miga, Karen H., Garrison, Erik, Marschall, Tobias, Hall, Ira M., Li, Heng, Paten, Benedict
Publicado 2023