Integrating long-range connectivity information into de Bruijn graphs
Turner, Isaac, Garimella, Kiran V, Iqbal, Zamin, McVean, Gil
Published in Bioinformatics (01.08.2018)
Published in Bioinformatics (01.08.2018)
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Journal Article
A framework for variation discovery and genotyping using next-generation DNA sequencing data
DePristo, Mark A, Banks, Eric, Poplin, Ryan, Garimella, Kiran V, Maguire, Jared R, Hartl, Christopher, Philippakis, Anthony A, del Angel, Guillermo, Rivas, Manuel A, Hanna, Matt, McKenna, Aaron, Fennell, Tim J, Kernytsky, Andrew M, Sivachenko, Andrey Y, Cibulskis, Kristian, Gabriel, Stacey B, Altshuler, David, Daly, Mark J
Published in Nature genetics (01.05.2011)
Published in Nature genetics (01.05.2011)
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Journal Article
The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data
McKenna, Aaron, Hanna, Matthew, Banks, Eric, Sivachenko, Andrey, Cibulskis, Kristian, Kernytsky, Andrew, Garimella, Kiran, Altshuler, David, Gabriel, Stacey, Daly, Mark, DePristo, Mark A
Published in Genome research (01.09.2010)
Published in Genome research (01.09.2010)
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Journal Article
Integrative genotyping of cancer and immune phenotypes by long-read sequencing
Penter, Livius, Borji, Mehdi, Nagler, Adi, Lyu, Haoxiang, Lu, Wesley S., Cieri, Nicoletta, Maurer, Katie, Oliveira, Giacomo, Al’Khafaji, Aziz M., Garimella, Kiran V., Li, Shuqiang, Neuberg, Donna S., Ritz, Jerome, Soiffer, Robert J., Garcia, Jacqueline S., Livak, Kenneth J., Wu, Catherine J.
Published in Nature communications (02.01.2024)
Published in Nature communications (02.01.2024)
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Journal Article
High-throughput RNA isoform sequencing using programmed cDNA concatenation
Al’Khafaji, Aziz M., Smith, Jonathan T., Garimella, Kiran V., Babadi, Mehrtash, Popic, Victoria, Sade-Feldman, Moshe, Gatzen, Michael, Sarkizova, Siranush, Schwartz, Marc A., Blaum, Emily M., Day, Allyson, Costello, Maura, Bowers, Tera, Gabriel, Stacey, Banks, Eric, Philippakis, Anthony A., Boland, Genevieve M., Blainey, Paul C., Hacohen, Nir
Published in Nature biotechnology (01.04.2024)
Published in Nature biotechnology (01.04.2024)
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Journal Article
Transcriptome variation in human tissues revealed by long-read sequencing
Glinos, Dafni A., Garborcauskas, Garrett, Hoffman, Paul, Ehsan, Nava, Jiang, Lihua, Gokden, Alper, Dai, Xiaoguang, Aguet, François, Brown, Kathleen L., Garimella, Kiran, Bowers, Tera, Costello, Maura, Ardlie, Kristin, Jian, Ruiqi, Tucker, Nathan R., Ellinor, Patrick T., Harrington, Eoghan D., Tang, Hua, Snyder, Michael, Juul, Sissel, Mohammadi, Pejman, MacArthur, Daniel G., Lappalainen, Tuuli, Cummings, Beryl B.
Published in Nature (London) (11.08.2022)
Published in Nature (London) (11.08.2022)
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Journal Article
Images and misinformation in political groups: Evidence from WhatsApp in India
Kiran Garimella, Dean Eckles
Published in Harvard Kennedy School misinformation review. (07.07.2020)
Published in Harvard Kennedy School misinformation review. (07.07.2020)
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Journal Article
From FastQ data to high confidence variant calls: the Genome Analysis Toolkit best practices pipeline
Van der Auwera, Geraldine A, Carneiro, Mauricio O, Hartl, Chris, Poplin, Ryan, Del Angel, Guillermo, Levy-Moonshine, Ami, Jordan, Tadeusz, Shakir, Khalid, Roazen, David, Thibault, Joel, Banks, Eric, Garimella, Kiran V, Altshuler, David, Gabriel, Stacey, DePristo, Mark A
Published in Current protocols in bioinformatics (2013)
Published in Current protocols in bioinformatics (2013)
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Journal Article
Detection of simple and complex de novo mutations with multiple reference sequences
Garimella, Kiran V, Iqbal, Zamin, Krause, Michael A, Campino, Susana, Kekre, Mihir, Drury, Eleanor, Kwiatkowski, Dominic, Sá, Juliana M, Wellems, Thomas E, McVean, Gil
Published in Genome research (01.08.2020)
Published in Genome research (01.08.2020)
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Journal Article
Providing normative information increases intentions to accept a COVID-19 vaccine
Moehring, Alex, Collis, Avinash, Garimella, Kiran, Rahimian, M. Amin, Aral, Sinan, Eckles, Dean
Published in Nature communications (09.01.2023)
Published in Nature communications (09.01.2023)
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Journal Article
Repeat expansions confer WRN dependence in microsatellite-unstable cancers
van Wietmarschen, Niek, Sridharan, Sriram, Nathan, William J., Tubbs, Anthony, Chan, Edmond M., Callen, Elsa, Wu, Wei, Belinky, Frida, Tripathi, Veenu, Wong, Nancy, Foster, Kyla, Noorbakhsh, Javad, Garimella, Kiran, Cruz-Migoni, Abimael, Sommers, Joshua A., Huang, Yongqing, Borah, Ashir A., Smith, Jonathan T., Kalfon, Jeremie, Kesten, Nikolas, Fugger, Kasper, Walker, Robert L., Dolzhenko, Egor, Eberle, Michael A., Hayward, Bruce E., Usdin, Karen, Freudenreich, Catherine H., Brosh, Robert M., West, Stephen C., McHugh, Peter J., Meltzer, Paul S., Bass, Adam J., Nussenzweig, André
Published in Nature (London) (08.10.2020)
Published in Nature (London) (08.10.2020)
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Journal Article
Patterns and rates of exonic de novo mutations in autism spectrum disorders
Neale, Benjamin M., Kou, Yan, Liu, Li, Ma’ayan, Avi, Samocha, Kaitlin E., Sabo, Aniko, Lin, Chiao-Feng, Stevens, Christine, Wang, Li-San, Makarov, Vladimir, Polak, Paz, Yoon, Seungtai, Maguire, Jared, Crawford, Emily L., Campbell, Nicholas G., Geller, Evan T., Valladares, Otto, Schafer, Chad, Liu, Han, Zhao, Tuo, Cai, Guiqing, Lihm, Jayon, Dannenfelser, Ruth, Jabado, Omar, Peralta, Zuleyma, Nagaswamy, Uma, Muzny, Donna, Reid, Jeffrey G., Newsham, Irene, Wu, Yuanqing, Lewis, Lora, Han, Yi, Voight, Benjamin F., Lim, Elaine, Rossin, Elizabeth, Kirby, Andrew, Flannick, Jason, Fromer, Menachem, Shakir, Khalid, Fennell, Tim, Garimella, Kiran, Banks, Eric, Poplin, Ryan, Gabriel, Stacey, DePristo, Mark, Wimbish, Jack R., Boone, Braden E., Levy, Shawn E., Betancur, Catalina, Sunyaev, Shamil, Boerwinkle, Eric, Buxbaum, Joseph D., Cook Jr, Edwin H., Devlin, Bernie, Gibbs, Richard A., Roeder, Kathryn, Schellenberg, Gerard D., Sutcliffe, James S., Daly, Mark J.
Published in Nature (London) (10.05.2012)
Published in Nature (London) (10.05.2012)
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Journal Article
Exome Sequencing, ANGPTL3 Mutations, and Familial Combined Hypolipidemia
Musunuru, Kiran, Pirruccello, James P, Do, Ron, Peloso, Gina M, Guiducci, Candace, Sougnez, Carrie, Garimella, Kiran V, Fisher, Sheila, Abreu, Justin, Barry, Andrew J, Fennell, Tim, Banks, Eric, Ambrogio, Lauren, Cibulskis, Kristian, Kernytsky, Andrew, Gonzalez, Elena, Rudzicz, Nicholas, Engert, James C, DePristo, Mark A, Daly, Mark J, Cohen, Jonathan C, Hobbs, Helen H, Altshuler, David, Schonfeld, Gustav, Gabriel, Stacey B, Yue, Pin, Kathiresan, Sekar
Published in The New England journal of medicine (02.12.2010)
Published in The New England journal of medicine (02.12.2010)
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Journal Article
Variation in genome-wide mutation rates within and between human families
CONRAD, Donald F, KEEBLER, Jonathan E. M, ZILVERSMIT, Martine, CARTWRIGHT, Reed, ROULEAU, Guy A, DALY, Mark, STONE, Eric A, HURLES, Matthew E, AWADALLA, Philip, DEPRISTO, Mark A, LINDSAY, Sarah J, YUJUN ZHANG, CASALS, Ferran, IDAGHDOUR, Youssef, HARTL, Chris L, TORROJA, Carlos, GARIMELLA, Kiran V
Published in Nature genetics (01.07.2011)
Published in Nature genetics (01.07.2011)
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Journal Article
Exome sequencing can improve diagnosis and alter patient management
Dixon-Salazar, Tracy J, Silhavy, Jennifer L, Udpa, Nitin, Schroth, Jana, Bielas, Stephanie, Schaffer, Ashleigh E, Olvera, Jesus, Bafna, Vineet, Zaki, Maha S, Abdel-Salam, Ghada H, Mansour, Lobna A, Selim, Laila, Abdel-Hadi, Sawsan, Marzouki, Naima, Ben-Omran, Tawfeg, Al-Saana, Nouriya A, Sonmez, F Müjgan, Celep, Figen, Azam, Matloob, Hill, Kiley J, Collazo, Adrienne, Fenstermaker, Ali G, Novarino, Gaia, Akizu, Naiara, Garimella, Kiran V, Sougnez, Carrie, Russ, Carsten, Gabriel, Stacey B, Gleeson, Joseph G
Published in Science translational medicine (13.06.2012)
Published in Science translational medicine (13.06.2012)
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Exome sequencing and the genetic basis of complex traits
Kiezun, Adam, Garimella, Kiran, Do, Ron, Stitziel, Nathan O, Neale, Benjamin M, McLaren, Paul J, Gupta, Namrata, Sklar, Pamela, Sullivan, Patrick F, Moran, Jennifer L, Hultman, Christina M, Lichtenstein, Paul, Magnusson, Patrik, Lehner, Thomas, Shugart, Yin Yao, Price, Alkes L, de Bakker, Paul I W, Purcell, Shaun M, Sunyaev, Shamil R
Published in Nature genetics (01.06.2012)
Published in Nature genetics (01.06.2012)
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Journal Article
A Beary Good Genome: Haplotype-Resolved, Chromosome-Level Assembly of the Brown Bear (Ursus arctos)
Armstrong, Ellie E, Perry, Blair W, Huang, Yongqing, Garimella, Kiran V, Jansen, Heiko T, Robbins, Charles T, Tucker, Nathan R, Kelley, Joanna L
Published in Genome biology and evolution (06.09.2022)
Published in Genome biology and evolution (06.09.2022)
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Journal Article
Extremely low-coverage sequencing and imputation increases power for genome-wide association studies
Pasaniuc, Bogdan, Rohland, Nadin, McLaren, Paul J, Garimella, Kiran, Zaitlen, Noah, Li, Heng, Gupta, Namrata, Neale, Benjamin M, Daly, Mark J, Sklar, Pamela, Sullivan, Patrick F, Bergen, Sarah, Moran, Jennifer L, Hultman, Christina M, Lichtenstein, Paul, Magnusson, Patrik, Purcell, Shaun M, Haas, David W, Liang, Liming, Sunyaev, Shamil, Patterson, Nick, de Bakker, Paul I W, Reich, David, Price, Alkes L
Published in Nature genetics (01.06.2012)
Published in Nature genetics (01.06.2012)
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Journal Article
Neurodevelopmental Disorder Caused by Deletion of CHASERR , a lncRNA Gene
Ganesh, Vijay S, Riquin, Kevin, Chatron, Nicolas, Yoon, Esther, Lamar, Kay-Marie, Aziz, Miriam C, Monin, Pauline, O'Leary, Melanie C, Goodrich, Julia K, Garimella, Kiran V, England, Eleina, Weisburd, Ben, Aguet, François, Bacino, Carlos A, Murdock, David R, Dai, Hongzheng, Rosenfeld, Jill A, Emrick, Lisa T, Ketkar, Shamika, Sarusi, Yael, Sanlaville, Damien, Kayani, Saima, Broadbent, Brian, Pengam, Alisée, Isidor, Bertrand, Bezieau, Stéphane, Cogné, Benjamin, MacArthur, Daniel G, Ulitsky, Igor, Carvill, Gemma L, O'Donnell-Luria, Anne
Published in The New England journal of medicine (24.10.2024)
Published in The New England journal of medicine (24.10.2024)
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