The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

Cited by (543)

Items 101–200 of 543

1. A multi-omic atlas of the human frontal cortex for aging and Alzheimer’s disease research
   De Jager, Philip L., Ma, Yiyi, McCabe, Cristin, Xu, Jishu, Vardarajan, Badri N., Felsky, Daniel, Klein, Hans-Ulrich, White, Charles C., Peters, Mette A., Lodgson, Ben et al. · 2018 · Scientific Data
2. Cytosine, but not adenine, base editors induce genome-wide off-target mutations in rice
   Jin, Shuai, Zong, Yuan, Gao, Qiang, Zhu, Zixu, Wang, Yanpeng, Qin, Peng, Liang, Chengzhi, Wang, Daowen, Qiu, Jin-Long, Zhang, Feng et al. · 2019 · Science
3. Haplotype-resolved diverse human genomes and integrated analysis of structural variation
   Ebert, Peter, Audano, Peter A., Zhu, Qihui, Rodriguez-Martin, Bernardo, Porubsky, David, Bonder, Marc Jan, Sulovari, Arvis, Ebler, Jana, Zhou, Weichen, Serra Mari, Rebecca et al. · 2021 · Science
4. Clonal haematopoiesis harbouring AML-associated mutations is ubiquitous in healthy adults
   Young, Andrew L., Challen, Grant A., Birmann, Brenda M., Druley, Todd E. · 2016 · Nature Communications
5. Domestication and Divergence of Saccharomyces cerevisiae Beer Yeasts
   Gallone, Brigida, Steensels, Jan, Prahl, Troels, Soriaga, Leah, Saels, Veerle, Herrera-Malaver, Beatriz, Merlevede, Adriaan, Roncoroni, Miguel, Voordeckers, Karin, Miraglia, Loren et al. · 2016 · Cell
6. Genetic basis for congenital heart disease: Revisited: A scientific statement from the American Heart Association
   Pierpont, Mary Ella, Brueckner, Martina, Chung, Wendy K., Garg, Vidu, Lacro, Ronald V., McGuire, Amy L., Mital, Seema, Priest, James R., Pu, William T., Roberts, Amy et al. · 2018 · Circulation
7. Formation of new chromatin domains determines pathogenicity of genomic duplications
   Franke, Martin, Ibrahim, Daniel M., Andrey, Guillaume, Schwarzer, Wibke, Heinrich, Verena, Schöpflin, Robert, Kraft, Katerina, Kempfer, Rieke, Jerković, Ivana, Chan, Wing-Lee et al. · 2016 · Nature
8. Genome sequencing highlights the dynamic early history of dogs
   Freedman, Adam H., Gronau, Ilan, Schweizer, Rena M., Ortega-Del Vecchyo, Diego, Han, Eunjung, Silva, Pedro M., Galaverni, Marco, Fan, Zhenxin, Marx, Peter, Lorente-Galdos, Belen et al. · 2014 · PLoS Genetics
9. Genome flux and stasis in a five millennium transect of European prehistory
   Gamba, Cristina, Jones, Eppie R., Teasdale, Matthew D., McLaughlin, Russell L., Gonzalez-Fortes, Gloria, Mattiangeli, Valeria, Domboróczki, László, Kővári, Ivett, Pap, Ildikó, Anders, Alexandra et al. · 2014 · Nature Communications
10. Transcriptome-wide off-target RNA editing induced by CRISPR-guided DNA base editors
    Grünewald, Julian, Zhou, Ronghao, Garcia, Sara P., Iyer, Sowmya, Lareau, Caleb A., Aryee, Martin J., Joung, J. Keith · 2019 · Nature
11. Proteogenomic and metabolomic characterization of human glioblastoma
    Wang, Liang-Bo, Karpova, Alla, Gritsenko, Marina A., Kyle, Jennifer E., Cao, Song, Li, Yize, Rykunov, Dmitry, Colaprico, Antonio, Rothstein, Joseph H., Hong, Runyu et al. · 2021 · Cancer Cell
12. Induction of resistance to chimeric antigen receptor T cell therapy by transduction of a single leukemic B cell
    Ruella, Marco, Xu, Jun, Barrett, David M., Fraietta, Joseph A., Reich, Tyler J., Ambrose, David E., Klichinsky, Michael, Shestova, Olga, Patel, Prachi R., Kulikovskaya, Irina et al. · 2018 · Nature Medicine
13. Loss of epigenetic information as a cause of mammalian aging
    Yang, Jae-Hyun, Hayano, Motoshi, Griffin, Patrick T., Amorim, João A., Bonkowski, Michael S., Apostolides, John K., Salfati, Elias L., Blanchette, Marco, Munding, Elizabeth M., Bhakta, Mital et al. · 2023 · Cell
14. Excess of rare, inherited truncating mutations in autism
    Krumm, Niklas, Turner, Tychele N, Baker, Carl, Vives, Laura, Mohajeri, Kiana, Witherspoon, Kali, Raja, Archana, Coe, Bradley P, Stessman, Holly A, He, Zong-Xiao et al. · 2015 · Nature Genetics
15. Systematic analysis of telomere length and somatic alterations in 31 cancer types
    Barthel, Floris P, Wei, Wei, Tang, Ming, Martinez-Ledesma, Emmanuel, Hu, Xin, Amin, Samirkumar B, Akdemir, Kadir C, Seth, Sahil, Song, Xingzhi, Wang, Qianghu et al. · 2017 · Nature Genetics
16. Multi-omic machine learning predictor of breast cancer therapy response
    Sammut, Stephen-John, Crispin-Ortuzar, Mireia, Chin, Suet-Feung, Provenzano, Elena, Bardwell, Helen A., Ma, Wenxin, Cope, Wei, Dariush, Ali, Dawson, Sarah-Jane, Abraham, Jean E. et al. · 2022 · Nature
17. Aging and neurodegeneration are associated with increased mutations in single human neurons
    Lodato, Michael A., Rodin, Rachel E., Bohrson, Craig L., Coulter, Michael E., Barton, Alison R., Kwon, Minseok, Sherman, Maxwell A., Vitzthum, Carl M., Luquette, Lovelace J., Yandava, Chandri N. et al. · 2018 · Science
18. Piercing the dark matter: bioinformatics of long-range sequencing and mapping
    Sedlazeck, Fritz J., Lee, Hayan, Darby, Charlotte A., Schatz, Michael C. · 2018 · Nature Reviews Genetics
19. The barley pan-genome reveals the hidden legacy of mutation breeding
    Jayakodi, Murukarthick, Padmarasu, Sudharsan, Haberer, Georg, Bonthala, Venkata Suresh, Gundlach, Heidrun, Monat, Cécile, Lux, Thomas, Kamal, Nadia, Lang, Daniel, Himmelbach, Axel et al. · 2020 · Nature
20. MHC proteins confer differential sensitivity to CTLA-4 and PD-1 blockade in untreated metastatic melanoma
    Rodig, Scott J., Gusenleitner, Daniel, Jackson, Donald G., Gjini, Evisa, Giobbie-Hurder, Anita, Jin, Chelsea, Chang, Han, Lovitch, Scott B., Horak, Christine, Weber, Jeffrey S. et al. · 2018 · Science Translational Medicine
21. Characteristics of anti-CD19 CAR T cell infusion products associated with efficacy and toxicity in patients with large B cell lymphomas
    Deng, Qing, Han, Guangchun, Puebla-Osorio, Nahum, Ma, Man Chun John, Strati, Paolo, Chasen, Beth, Dai, Enyu, Dang, Minghao, Jain, Neeraj, Yang, Haopeng et al. · 2020 · Nature Medicine
22. Inflammation-induced IgA+ cells dismantle anti-liver cancer immunity
    Shalapour, Shabnam, Lin, Xue-Jia, Bastian, Ingmar N., Brain, John, Burt, Alastair D., Aksenov, Alexander A., Vrbanac, Alison F., Li, Weihua, Perkins, Andres, Matsutani, Takaji et al. · 2017 · Nature
23. Characterizing the Major Structural Variant Alleles of the Human Genome
    Audano, Peter A., Sulovari, Arvis, Graves-Lindsay, Tina A., Cantsilieris, Stuart, Sorensen, Melanie, Welch, AnneMarie E., Dougherty, Max L., Nelson, Bradley J., Shah, Ankeeta, Dutcher, Susan K. et al. · 2019 · Cell
24. Design and Analysis of Single-Cell Sequencing Experiments
    Grün, Dominic, van Oudenaarden, Alexander · 2015 · Cell
25. Ancient gene flow from early modern humans into Eastern Neanderthals
    Kuhlwilm, Martin, Gronau, Ilan, Hubisz, Melissa J., de Filippo, Cesare, Prado-Martinez, Javier, Kircher, Martin, Fu, Qiaomei, Burbano, Hernán A., Lalueza-Fox, Carles, de la Rasilla, Marco et al. · 2016 · Nature
26. Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia
    Cortese, Andrea, Simone, Roberto, Sullivan, Roisin, Vandrovcova, Jana, Tariq, Huma, Yau, Wai Yan, Humphrey, Jack, Jaunmuktane, Zane, Sivakumar, Prasanth, Polke, James et al. · 2019 · Nature Genetics
27. Somatic mutation in single human neurons tracks developmental and transcriptional history
    Lodato, Michael A., Woodworth, Mollie B., Lee, Semin, Evrony, Gilad D., Mehta, Bhaven K., Karger, Amir, Lee, Soohyun, Chittenden, Thomas W., D’Gama, Alissa M., Cai, Xuyu et al. · 2015 · Science
28. Single-Cell Analysis of Human Pancreas Reveals Transcriptional Signatures of Aging and Somatic Mutation Patterns
    Enge, Martin, Arda, H. Efsun, Mignardi, Marco, Beausang, John, Bottino, Rita, Kim, Seung K., Quake, Stephen R. · 2017 · Cell
29. Nanopore sequencing and the Shasta toolkit enable efficient de novo assembly of eleven human genomes
    Shafin, Kishwar, Pesout, Trevor, Lorig-Roach, Ryan, Haukness, Marina, Olsen, Hugh E., Bosworth, Colleen, Armstrong, Joel, Tigyi, Kristof, Maurer, Nicholas, Koren, Sergey et al. · 2020 · Nature Biotechnology
30. A mutational signature reveals alterations underlying deficient homologous recombination repair in breast cancer
    Polak, Paz, Kim, Jaegil, Braunstein, Lior Z, Karlic, Rosa, Haradhavala, Nicholas J, Tiao, Grace, Rosebrock, Daniel, Livitz, Dimitri, Kübler, Kirsten, Mouw, Kent W et al. · 2017 · Nature Genetics
31. Parental influence on human germline de novo mutations in 1,548 trios from Iceland
    Jónsson, Hákon, Sulem, Patrick, Kehr, Birte, Kristmundsdottir, Snaedis, Zink, Florian, Hjartarson, Eirikur, Hardarson, Marteinn T., Hjorleifsson, Kristjan E., Eggertsson, Hannes P., Gudjonsson, Sigurjon Axel et al. · 2017 · Nature
32. Transcriptional and Cellular Diversity of the Human Heart
    Tucker, Nathan R., Chaffin, Mark, Fleming, Stephen J., Hall, Amelia W., Parsons, Victoria A., Bedi, Kenneth C., Akkad, Amer-Denis, Herndon, Caroline N., Arduini, Alessandro, Papangeli, Irinna et al. · 2020 · Circulation
33. BET inhibitor resistance emerges from leukaemia stem cells
    Fong, Chun Yew, Gilan, Omer, Lam, Enid Y. N., Rubin, Alan F., Ftouni, Sarah, Tyler, Dean, Stanley, Kym, Sinha, Devbarna, Yeh, Paul, Morison, Jessica et al. · 2015 · Nature
34. De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy
    Barcia, Giulia, Fleming, Matthew R, Deligniere, Aline, Gazula, Valeswara-Rao, Brown, Maile R, Langouet, Maeva, Chen, Haijun, Kronengold, Jack, Abhyankar, Avinash, Cilio, Roberta et al. · 2012 · Nature Genetics
35. Southern African ancient genomes estimate modern human divergence to 350,000 to 260,000 years ago
    Schlebusch, Carina M., Malmström, Helena, Günther, Torsten, Sjödin, Per, Coutinho, Alexandra, Edlund, Hanna, Munters, Arielle R., Vicente, Mário, Steyn, Maryna, Soodyall, Himla et al. · 2017 · Science
36. The prehistoric peopling of Southeast Asia
    McColl, Hugh, Racimo, Fernando, Vinner, Lasse, Demeter, Fabrice, Gakuhari, Takashi, Moreno-Mayar, J. Víctor, van Driem, George, Gram Wilken, Uffe, Seguin-Orlando, Andaine, de la Fuente Castro, Constanza et al. · 2018 · Science
37. Excavating Neandertal and Denisovan DNA from the genomes of Melanesian individuals
    Vernot, Benjamin, Tucci, Serena, Kelso, Janet, Schraiber, Joshua G., Wolf, Aaron B., Gittelman, Rachel M., Dannemann, Michael, Grote, Steffi, McCoy, Rajiv C., Norton, Heather et al. · 2016 · Science
38. Off-target RNA mutation induced by DNA base editing and its elimination by mutagenesis
    Zhou, Changyang, Sun, Yidi, Yan, Rui, Liu, Yajing, Zuo, Erwei, Gu, Chan, Han, Linxiao, Wei, Yu, Hu, Xinde, Zeng, Rong et al. · 2019 · Nature
39. Reliability of human cortical organoid generation
    Yoon, Se-Jin, Elahi, Lubayna S., Pașca, Anca M., Marton, Rebecca M., Gordon, Aaron, Revah, Omer, Miura, Yuki, Walczak, Elisabeth M., Holdgate, Gwendolyn M., Fan, H. Christina et al. · 2019 · Nature Methods
40. Personalized circulating tumor DNA analysis as a predictive biomarker in solid tumor patients treated with pembrolizumab
    Bratman, Scott V., Yang, S. Y. Cindy, Iafolla, Marco A. J., Liu, Zhihui, Hansen, Aaron R., Bedard, Philippe L., Lheureux, Stephanie, Spreafico, Anna, Razak, Albiruni Abdul, Shchegrova, Svetlana et al. · 2020 · Nature Cancer
41. Inherited and de novo genetic risk for autism impacts shared networks
    Ruzzo, Elizabeth K., Pérez-Cano, Laura, Jung, Jae-Yoon, Wang, Lee-kai, Kashef-Haghighi, Dorna, Hartl, Chris, Singh, Chanpreet, Xu, Jin, Hoekstra, Jackson N., Leventhal, Olivia et al. · 2019 · Cell
42. Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia
    Genovese, Giulio, Fromer, Menachem, Stahl, Eli A, Ruderfer, Douglas M, Chambert, Kimberly, Landén, Mikael, Moran, Jennifer L, Purcell, Shaun M, Sklar, Pamela, Sullivan, Patrick F et al. · 2016 · Nature Neuroscience
43. The impact of structural variation on human gene expression
    GTEx Consortium, Chiang, Colby, Scott, Alexandra J, Davis, Joe R, Tsang, Emily K, Li, Xin, Kim, Yungil, Hadzic, Tarik, Damani, Farhan N, Ganel, Liron et al. · 2017 · Nature Genetics
44. Inactivating Variants in ANGPTL4 and Risk of Coronary Artery Disease
    Dewey, Frederick E., Gusarova, Viktoria, O’Dushlaine, Colm, Gottesman, Omri, Trejos, Jesus, Hunt, Charleen, Van Hout, Cristopher V., Habegger, Lukas, Buckler, David, Lai, Ka-Man V. et al. · 2016 · New England Journal of Medicine
45. Natural selection interacts with recombination to shape the evolution of hybrid genomes
    Schumer, Molly, Xu, Chenling, Powell, Daniel L., Durvasula, Arun, Skov, Laurits, Holland, Chris, Blazier, John C., Sankararaman, Sriram, Andolfatto, Peter, Rosenthal, Gil G. et al. · 2018 · Science
46. Organoid Models of Human Liver Cancers Derived from Tumor Needle Biopsies
    Nuciforo, Sandro, Fofana, Isabel, Matter, Matthias S., Blumer, Tanja, Calabrese, Diego, Boldanova, Tujana, Piscuoglio, Salvatore, Wieland, Stefan, Ringnalda, Femke, Schwank, Gerald et al. · 2018 · Cell Reports
47. Genome-Informed Targeted Therapy for Osteosarcoma
    Sayles, Leanne C., Breese, Marcus R., Koehne, Amanda L., Leung, Stanley G., Lee, Alex G., Liu, Heng-Yi, Spillinger, Aviv, Shah, Avanthi T., Tanasa, Bogdan, Straessler, Krystal et al. · 2019 · Cancer Discovery
48. Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders
    Swedish Schizophrenia Study, Singh, Tarjinder, INTERVAL Study, DDD Study, UK10 K Consortium, Kurki, Mitja I, Curtis, David, Purcell, Shaun M, Crooks, Lucy, McRae, Jeremy et al. · 2016 · Nature Neuroscience
49. Recurrent somatic mutations in ACVR1 in pediatric midline high-grade astrocytoma
    Fontebasso, Adam M, Papillon-Cavanagh, Simon, Schwartzentruber, Jeremy, Nikbakht, Hamid, Gerges, Noha, Fiset, Pierre-Olivier, Bechet, Denise, Faury, Damien, De Jay, Nicolas, Ramkissoon, Lori A et al. · 2014 · Nature Genetics
50. Diverse alterations associated with resistance to KRAS(G12C) inhibition
    Zhao, Yulei, Murciano-Goroff, Yonina R., Xue, Jenny Y., Ang, Agnes, Lucas, Jessica, Mai, Trang T., Da Cruz Paula, Arnaud F., Saiki, Anne Y., Mohn, Deanna, Achanta, Pragathi et al. · 2021 · Nature
51. Low Incidence of Off-Target Mutations in Individual CRISPR-Cas9 and TALEN Targeted Human Stem Cell Clones Detected by Whole-Genome Sequencing
    Veres, Adrian, Gosis, Bridget S., Ding, Qiurong, Collins, Ryan, Ragavendran, Ashok, Brand, Harrison, Erdin, Serkan, Cowan, Chad A., Talkowski, Michael E., Musunuru, Kiran · 2014 · Cell Stem Cell
52. The landscape and therapeutic relevance of cancer-associated transcript fusions
    Yoshihara, K, Wang, Q, Torres-Garcia, W, Zheng, S, Vegesna, R, Kim, H, Verhaak, R G W · 2015 · Oncogene
53. Sequence Kernel Association Tests for the Combined Effect of Rare and Common Variants
    Ionita-Laza, Iuliana, Lee, Seunggeun, Makarov, Vlad, Buxbaum, Joseph D., Lin, Xihong · 2013 · The American Journal of Human Genetics
54. Using Whole-Exome Sequencing to Identify Inherited Causes of Autism
    Yu, Timothy W., Chahrour, Maria H., Coulter, Michael E., Jiralerspong, Sarn, Okamura-Ikeda, Kazuko, Ataman, Bulent, Schmitz-Abe, Klaus, Harmin, David A., Adli, Mazhar, Malik, Athar N. et al. · 2013 · Neuron
55. Tracing the evolutionary history and global expansion of Candida auris using population genomic analyses
    Chow, Nancy A., Muñoz, José F., Gade, Lalitha, Berkow, Elizabeth, Li, Xiao, Welsh, Rory M., Forsberg, Kaitlin, Lockhart, Shawn R., Adam, Rodney, Alanio, Alexandre et al. · 2020
56. Reproducible copy number variation patterns among single circulating tumor cells of lung cancer patients
    Ni, Xiaohui, Zhuo, Minglei, Su, Zhe, Duan, Jianchun, Gao, Yan, Wang, Zhijie, Zong, Chenghang, Bai, Hua, Chapman, Alec R., Zhao, Jun et al. · 2013 · Proceedings of the National Academy of Sciences
57. The sequences of 150,119 genomes in the UK Biobank
    Halldorsson, Bjarni V., Eggertsson, Hannes P., Moore, Kristjan H. S., Hauswedell, Hannes, Eiriksson, Ogmundur, Ulfarsson, Magnus O., Palsson, Gunnar, Hardarson, Marteinn T., Oddsson, Asmundur, Jensson, Brynjar O. et al. · 2022 · Nature
58. Perspective on Oncogenic Processes at the End of the Beginning of Cancer Genomics
    Ding, Li, Bailey, Matthew H., Porta-Pardo, Eduard, Thorsson, Vesteinn, Colaprico, Antonio, Bertrand, Denis, Gibbs, David L., Weerasinghe, Amila, Huang, Kuan-lin, Tokheim, Collin et al. · 2018 · Cell
59. Next-generation diagnostics and disease-gene discovery with the Exomiser
    Smedley, Damian, Jacobsen, Julius O B, Jäger, Marten, Köhler, Sebastian, Holtgrewe, Manuel, Schubach, Max, Siragusa, Enrico, Zemojtel, Tomasz, Buske, Orion J, Washington, Nicole L et al. · 2015 · Nature Protocols
60. Genetic identification of familial hypercholesterolemia within a single U.S. health care system
    Abul-Husn, Noura S., Manickam, Kandamurugu, Jones, Laney K., Wright, Eric A., Hartzel, Dustin N., Gonzaga-Jauregui, Claudia, O’Dushlaine, Colm, Leader, Joseph B., Lester Kirchner, H., Lindbuchler, D’Andra M. et al. · 2016 · Science
61. Impairment of immunity to Candida and Mycobacterium in humans with bi-allelic RORC mutations
    Okada, Satoshi, Markle, Janet G., Deenick, Elissa K., Mele, Federico, Averbuch, Dina, Lagos, Macarena, Alzahrani, Mohammed, Al-Muhsen, Saleh, Halwani, Rabih, Ma, Cindy S. et al. · 2015 · Science
62. Functional variants in the LRRK2 gene confer shared effects on risk for Crohn’s disease and Parkinson’s disease
    Hui, Ken Y., Fernandez-Hernandez, Heriberto, Hu, Jianzhong, Schaffner, Adam, Pankratz, Nathan, Hsu, Nai-Yun, Chuang, Ling-Shiang, Carmi, Shai, Villaverde, Nicole, Li, Xianting et al. · 2018 · Science Translational Medicine
63. A common Greenlandic TBC1D4 variant confers muscle insulin resistance and type 2 diabetes
    Moltke, Ida, Grarup, Niels, Jørgensen, Marit E., Bjerregaard, Peter, Treebak, Jonas T., Fumagalli, Matteo, Korneliussen, Thorfinn S., Andersen, Marianne A., Nielsen, Thomas S., Krarup, Nikolaj T. et al. · 2014 · Nature
64. A robust benchmark for detection of germline large deletions and insertions
    Zook, Justin M., Hansen, Nancy F., Olson, Nathan D., Chapman, Lesley, Mullikin, James C., Xiao, Chunlin, Sherry, Stephen, Koren, Sergey, Phillippy, Adam M., Boutros, Paul C. et al. · 2020 · Nature Biotechnology
65. Upper Palaeolithic genomes reveal deep roots of modern Eurasians
    Jones, Eppie R., Gonzalez-Fortes, Gloria, Connell, Sarah, Siska, Veronika, Eriksson, Anders, Martiniano, Rui, McLaughlin, Russell L., Gallego Llorente, Marcos, Cassidy, Lara M., Gamba, Cristina et al. · 2015 · Nature Communications
66. Whole-genome and multisector exome sequencing of primary and post-treatment glioblastoma reveals patterns of tumor evolution
    Kim, Hoon, Zheng, Siyuan, Amini, Seyed S., Virk, Selene M., Mikkelsen, Tom, Brat, Daniel J., Grimsby, Jonna, Sougnez, Carrie, Muller, Florian, Hu, Jian et al. · 2015 · Genome Research
67. Selective degradation of splicing factor CAPERα by anticancer sulfonamides
    Uehara, Taisuke, Minoshima, Yukinori, Sagane, Koji, Sugi, Naoko Hata, Mitsuhashi, Kaoru Ogawa, Yamamoto, Noboru, Kamiyama, Hiroshi, Takahashi, Kentaro, Kotake, Yoshihiko, Uesugi, Mai et al. · 2017 · Nature Chemical Biology
68. POT1 loss-of-function variants predispose to familial melanoma
    Robles-Espinoza, Carla Daniela, Harland, Mark, Ramsay, Andrew J, Aoude, Lauren G, Quesada, Víctor, Ding, Zhihao, Pooley, Karen A, Pritchard, Antonia L, Tiffen, Jessamy C, Petljak, Mia et al. · 2014 · Nature Genetics
69. Derived immune and ancestral pigmentation alleles in a 7,000-year-old Mesolithic European
    Olalde, Iñigo, Allentoft, Morten E., Sánchez-Quinto, Federico, Santpere, Gabriel, Chiang, Charleston W. K., DeGiorgio, Michael, Prado-Martinez, Javier, Rodríguez, Juan Antonio, Rasmussen, Simon, Quilez, Javier et al. · 2014 · Nature
70. 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 et al. · 2012 · Nature Genetics
71. Sotigalimab and/or nivolumab with chemotherapy in first-line metastatic pancreatic cancer: clinical and immunologic analyses from the randomized phase 2 PRINCE trial
    Padrón, Lacey J., Maurer, Deena M., O’Hara, Mark H., O’Reilly, Eileen M., Wolff, Robert A., Wainberg, Zev A., Ko, Andrew H., Fisher, George, Rahma, Osama, Lyman, Jaclyn P. et al. · 2022 · Nature Medicine
72. Bottlenecks and Selective Sweeps during Domestication Have Increased Deleterious Genetic Variation in Dogs
    Marsden, Clare D., Ortega-Del Vecchyo, Diego, O’Brien, Dennis P., Taylor, Jeremy F., Ramirez, Oscar, Vilà, Carles, Marques-Bonet, Tomas, Schnabel, Robert D., Wayne, Robert K., Lohmueller, Kirk E. · 2016 · Proceedings of the National Academy of Sciences
73. Towards population-scale long-read sequencing
    De Coster, Wouter, Weissensteiner, Matthias H., Sedlazeck, Fritz J. · 2021 · Nature Reviews Genetics
74. Rational discovery of molecular glue degraders via scalable chemical profiling
    Mayor-Ruiz, Cristina, Bauer, Sophie, Brand, Matthias, Kozicka, Zuzanna, Siklos, Marton, Imrichova, Hana, Kaltheuner, Ines H., Hahn, Elisa, Seiler, Kristina, Koren, Anna et al. · 2020 · Nature Chemical Biology
75. Whole Genome Sequencing Defines the Genetic Heterogeneity of Familial Pancreatic Cancer
    Roberts, Nicholas J., Norris, Alexis L., Petersen, Gloria M., Bondy, Melissa L., Brand, Randall, Gallinger, Steven, Kurtz, Robert C., Olson, Sara H., Rustgi, Anil K., Schwartz, Ann G. et al. · 2016 · Cancer Discovery
76. Genetic and phenotypic intra-species variation in Candida albicans
    Hirakawa, Matthew P., Martinez, Diego A., Sakthikumar, Sharadha, Anderson, Matthew Z., Berlin, Aaron, Gujja, Sharvari, Zeng, Qiandong, Zisson, Ethan, Wang, Joshua M., Greenberg, Joshua M. et al. · 2015 · Genome Research
77. Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome
    Santen, Gijs W E, Aten, Emmelien, Sun, Yu, Almomani, Rowida, Gilissen, Christian, Nielsen, Maartje, Kant, Sarina G, Snoeck, Irina N, Peeters, Els A J, Hilhorst-Hofstee, Yvonne et al. · 2012 · Nature Genetics
78. An analytical framework for whole-genome sequence association studies and its implications for autism spectrum disorder
    Werling, Donna M., Brand, Harrison, An, Joon-Yong, Stone, Matthew R., Zhu, Lingxue, Glessner, Joseph T., Collins, Ryan L., Dong, Shan, Layer, Ryan M., Markenscoff-Papadimitriou, Eirene et al. · 2018 · Nature Genetics
79. The evolution of drug resistance in clinical isolates of Candida albicans.
    Ford, Christopher B, Funt, Jason M, Abbey, Darren, Issi, Luca, Guiducci, Candace, Martinez, Diego A, Delorey, Toni, Li, Bi yu, White, Theodore C, Cuomo, Christina et al. · 2015 · eLife
80. Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity
    Saleheen, Danish, Natarajan, Pradeep, Armean, Irina M., Zhao, Wei, Rasheed, Asif, Khetarpal, Sumeet A., Won, Hong-Hee, Karczewski, Konrad J., O’Donnell-Luria, Anne H., Samocha, Kaitlin E. et al. · 2017 · Nature
81. Convergent genomic signatures of domestication in sheep and goats
    Alberto, Florian J., Boyer, Frédéric, Orozco-terWengel, Pablo, Streeter, Ian, Servin, Bertrand, de Villemereuil, Pierre, Benjelloun, Badr, Librado, Pablo, Biscarini, Filippo, Colli, Licia et al. · 2018 · Nature Communications
82. A rare penetrant mutation in CFH confers high risk of age-related macular degeneration
    Raychaudhuri, Soumya, Iartchouk, Oleg, Chin, Kimberly, Tan, Perciliz L, Tai, Albert K, Ripke, Stephan, Gowrisankar, Sivakumar, Vemuri, Soumya, Montgomery, Kate, Yu, Yi et al. · 2011 · Nature Genetics
83. Cloud computing for genomic data analysis and collaboration
    Langmead, Ben, Nellore, Abhinav · 2018 · Nature Reviews Genetics
84. A comprehensive comparison of RNA-Seq-based transcriptome analysis from reads to differential gene expression and cross-comparison with microarrays: a case study in Saccharomyces cerevisiae
    Nookaew, Intawat, Papini, Marta, Pornputtapong, Natapol, Scalcinati, Gionata, Fagerberg, Linn, Uhlén, Matthias, Nielsen, Jens · 2012 · Nucleic Acids Research
85. Genomic signatures of extensive inbreeding in Isle Royale wolves, a population on the threshold of extinction
    Robinson, Jacqueline A., Räikkönen, Jannikke, Vucetich, Leah M., Vucetich, John A., Peterson, Rolf O., Lohmueller, Kirk E., Wayne, Robert K. · 2019 · Science Advances
86. Organoid cultures recapitulate esophageal adenocarcinoma heterogeneity providing a model for clonality studies and precision therapeutics
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