Pesquisa | Portal de Pesquisa da BVS Enfermagem

1.

Passenger Mutations in More Than 2,500 Cancer Genomes: Overall Molecular Functional Impact and Consequences.

Kumar, Sushant; Warrell, Jonathan; Li, Shantao; McGillivray, Patrick D; Meyerson, William; Salichos, Leonidas; Harmanci, Arif; Martinez-Fundichely, Alexander; Chan, Calvin W Y; Nielsen, Morten Muhlig; Lochovsky, Lucas; Zhang, Yan; Li, Xiaotong; Lou, Shaoke; Pedersen, Jakob Skou; Herrmann, Carl; Getz, Gad; Khurana, Ekta; Gerstein, Mark B.

Cell ; 180(5): 915-927.e16, 2020 03 05.

Artigo em Inglês | MEDLINE | ID: mdl-32084333

2.

Comprehensive Characterization of Cancer Driver Genes and Mutations.

Bailey, Matthew H; Tokheim, Collin; Porta-Pardo, Eduard; Sengupta, Sohini; Bertrand, Denis; Weerasinghe, Amila; Colaprico, Antonio; Wendl, Michael C; Kim, Jaegil; Reardon, Brendan; Ng, Patrick Kwok-Shing; Jeong, Kang Jin; Cao, Song; Wang, Zixing; Gao, Jianjiong; Gao, Qingsong; Wang, Fang; Liu, Eric Minwei; Mularoni, Loris; Rubio-Perez, Carlota; Nagarajan, Niranjan; Cortés-Ciriano, Isidro; Zhou, Daniel Cui; Liang, Wen-Wei; Hess, Julian M; Yellapantula, Venkata D; Tamborero, David; Gonzalez-Perez, Abel; Suphavilai, Chayaporn; Ko, Jia Yu; Khurana, Ekta; Park, Peter J; Van Allen, Eliezer M; Liang, Han; Lawrence, Michael S; Godzik, Adam; Lopez-Bigas, Nuria; Stuart, Josh; Wheeler, David; Getz, Gad; Chen, Ken; Lazar, Alexander J; Mills, Gordon B; Karchin, Rachel; Ding, Li.

Cell ; 173(2): 371-385.e18, 2018 04 05.

Artigo em Inglês | MEDLINE | ID: mdl-29625053

3.

Comprehensive Characterization of Cancer Driver Genes and Mutations.

Bailey, Matthew H; Tokheim, Collin; Porta-Pardo, Eduard; Sengupta, Sohini; Bertrand, Denis; Weerasinghe, Amila; Colaprico, Antonio; Wendl, Michael C; Kim, Jaegil; Reardon, Brendan; Kwok-Shing Ng, Patrick; Jeong, Kang Jin; Cao, Song; Wang, Zixing; Gao, Jianjiong; Gao, Qingsong; Wang, Fang; Liu, Eric Minwei; Mularoni, Loris; Rubio-Perez, Carlota; Nagarajan, Niranjan; Cortés-Ciriano, Isidro; Zhou, Daniel Cui; Liang, Wen-Wei; Hess, Julian M; Yellapantula, Venkata D; Tamborero, David; Gonzalez-Perez, Abel; Suphavilai, Chayaporn; Ko, Jia Yu; Khurana, Ekta; Park, Peter J; Van Allen, Eliezer M; Liang, Han; Lawrence, Michael S; Godzik, Adam; Lopez-Bigas, Nuria; Stuart, Josh; Wheeler, David; Getz, Gad; Chen, Ken; Lazar, Alexander J; Mills, Gordon B; Karchin, Rachel; Ding, Li.

Cell ; 174(4): 1034-1035, 2018 08 09.

Artigo em Inglês | MEDLINE | ID: mdl-30096302

4.

Patterns of somatic structural variation in human cancer genomes.

Li, Yilong; Roberts, Nicola D; Wala, Jeremiah A; Shapira, Ofer; Schumacher, Steven E; Kumar, Kiran; Khurana, Ekta; Waszak, Sebastian; Korbel, Jan O; Haber, James E; Imielinski, Marcin; Weischenfeldt, Joachim; Beroukhim, Rameen; Campbell, Peter J.

Nature ; 578(7793): 112-121, 2020 02.

Artigo em Inglês | MEDLINE | ID: mdl-32025012

5.

Author Correction: Patterns of somatic structural variation in human cancer genomes.

Li, Yilong; Roberts, Nicola D; Wala, Jeremiah A; Shapira, Ofer; Schumacher, Steven E; Kumar, Kiran; Khurana, Ekta; Waszak, Sebastian; Korbel, Jan O; Haber, James E; Imielinski, Marcin; Weischenfeldt, Joachim; Beroukhim, Rameen; Campbell, Peter J.

Nature ; 614(7948): E38, 2023 Feb.

Artigo em Inglês | MEDLINE | ID: mdl-36697835

6.

Systems biology analysis of human genomes points to key pathways conferring spina bifida risk.

Aguiar-Pulido, Vanessa; Wolujewicz, Paul; Martinez-Fundichely, Alexander; Elhaik, Eran; Thareja, Gaurav; Abdel Aleem, Alice; Chalhoub, Nader; Cuykendall, Tawny; Al-Zamer, Jamel; Lei, Yunping; El-Bashir, Haitham; Musser, James M; Al-Kaabi, Abdulla; Shaw, Gary M; Khurana, Ekta; Suhre, Karsten; Mason, Christopher E; Elemento, Olivier; Finnell, Richard H; Ross, M Elizabeth.

Proc Natl Acad Sci U S A ; 118(51)2021 12 21.

Artigo em Inglês | MEDLINE | ID: mdl-34916285

7.

CNCDatabase: a database of non-coding cancer drivers.

Liu, Eric Minwei; Martinez-Fundichely, Alexander; Bollapragada, Rajesh; Spiewack, Maurice; Khurana, Ekta.

Nucleic Acids Res ; 49(D1): D1094-D1101, 2021 01 08.

Artigo em Inglês | MEDLINE | ID: mdl-33095860

8.

Loss-of-function tolerance of enhancers in the human genome.

Xu, Duo; Gokcumen, Omer; Khurana, Ekta.

PLoS Genet ; 16(4): e1008663, 2020 04.

Artigo em Inglês | MEDLINE | ID: mdl-32243438

9.

Role of non-coding sequence variants in cancer.

Khurana, Ekta; Fu, Yao; Chakravarty, Dimple; Demichelis, Francesca; Rubin, Mark A; Gerstein, Mark.

Nat Rev Genet ; 17(2): 93-108, 2016 Feb.

Artigo em Inglês | MEDLINE | ID: mdl-26781813

10.

FUN-LDA: A Latent Dirichlet Allocation Model for Predicting Tissue-Specific Functional Effects of Noncoding Variation: Methods and Applications.

Backenroth, Daniel; He, Zihuai; Kiryluk, Krzysztof; Boeva, Valentina; Pethukova, Lynn; Khurana, Ekta; Christiano, Angela; Buxbaum, Joseph D; Ionita-Laza, Iuliana.

Am J Hum Genet ; 102(5): 920-942, 2018 05 03.

Artigo em Inglês | MEDLINE | ID: mdl-29727691

11.

MYBL1 rearrangements and MYB amplification in breast adenoid cystic carcinomas lacking the MYB-NFIB fusion gene.

Kim, Jisun; Geyer, Felipe C; Martelotto, Luciano G; Ng, Charlotte Ky; Lim, Raymond S; Selenica, Pier; Li, Anqi; Pareja, Fresia; Fusco, Nicola; Edelweiss, Marcia; Kumar, Rahul; Gularte-Merida, Rodrigo; Forbes, Andre N; Khurana, Ekta; Mariani, Odette; Badve, Sunil; Vincent-Salomon, Anne; Norton, Larry; Reis-Filho, Jorge S; Weigelt, Britta.

J Pathol ; 244(2): 143-150, 2018 02.

Artigo em Inglês | MEDLINE | ID: mdl-29149504

12.

Architecture of the human regulatory network derived from ENCODE data.

Gerstein, Mark B; Kundaje, Anshul; Hariharan, Manoj; Landt, Stephen G; Yan, Koon-Kiu; Cheng, Chao; Mu, Xinmeng Jasmine; Khurana, Ekta; Rozowsky, Joel; Alexander, Roger; Min, Renqiang; Alves, Pedro; Abyzov, Alexej; Addleman, Nick; Bhardwaj, Nitin; Boyle, Alan P; Cayting, Philip; Charos, Alexandra; Chen, David Z; Cheng, Yong; Clarke, Declan; Eastman, Catharine; Euskirchen, Ghia; Frietze, Seth; Fu, Yao; Gertz, Jason; Grubert, Fabian; Harmanci, Arif; Jain, Preti; Kasowski, Maya; Lacroute, Phil; Leng, Jing Jane; Lian, Jin; Monahan, Hannah; O'Geen, Henriette; Ouyang, Zhengqing; Partridge, E Christopher; Patacsil, Dorrelyn; Pauli, Florencia; Raha, Debasish; Ramirez, Lucia; Reddy, Timothy E; Reed, Brian; Shi, Minyi; Slifer, Teri; Wang, Jing; Wu, Linfeng; Yang, Xinqiong; Yip, Kevin Y; Zilberman-Schapira, Gili.

Nature ; 489(7414): 91-100, 2012 Sep 06.

Artigo em Inglês | MEDLINE | ID: mdl-22955619

13.

Cancer genomics: Hard-to-reach repairs.

Khurana, Ekta.

Nature ; 532(7598): 181-2, 2016 Apr 14.

Artigo em Inglês | MEDLINE | ID: mdl-27075092

14.

Mapping copy number variation by population-scale genome sequencing.

Mills, Ryan E; Walter, Klaudia; Stewart, Chip; Handsaker, Robert E; Chen, Ken; Alkan, Can; Abyzov, Alexej; Yoon, Seungtai Chris; Ye, Kai; Cheetham, R Keira; Chinwalla, Asif; Conrad, Donald F; Fu, Yutao; Grubert, Fabian; Hajirasouliha, Iman; Hormozdiari, Fereydoun; Iakoucheva, Lilia M; Iqbal, Zamin; Kang, Shuli; Kidd, Jeffrey M; Konkel, Miriam K; Korn, Joshua; Khurana, Ekta; Kural, Deniz; Lam, Hugo Y K; Leng, Jing; Li, Ruiqiang; Li, Yingrui; Lin, Chang-Yun; Luo, Ruibang; Mu, Xinmeng Jasmine; Nemesh, James; Peckham, Heather E; Rausch, Tobias; Scally, Aylwyn; Shi, Xinghua; Stromberg, Michael P; Stütz, Adrian M; Urban, Alexander Eckehart; Walker, Jerilyn A; Wu, Jiantao; Zhang, Yujun; Zhang, Zhengdong D; Batzer, Mark A; Ding, Li; Marth, Gabor T; McVean, Gil; Sebat, Jonathan; Snyder, Michael; Wang, Jun.

Nature ; 470(7332): 59-65, 2011 Feb 03.

Artigo em Inglês | MEDLINE | ID: mdl-21293372

15.

LARVA: an integrative framework for large-scale analysis of recurrent variants in noncoding annotations.

Lochovsky, Lucas; Zhang, Jing; Fu, Yao; Khurana, Ekta; Gerstein, Mark.

Nucleic Acids Res ; 43(17): 8123-34, 2015 Sep 30.

Artigo em Inglês | MEDLINE | ID: mdl-26304545

16.

Prediction and characterization of noncoding RNAs in C. elegans by integrating conservation, secondary structure, and high-throughput sequencing and array data.

Lu, Zhi John; Yip, Kevin Y; Wang, Guilin; Shou, Chong; Hillier, Ladeana W; Khurana, Ekta; Agarwal, Ashish; Auerbach, Raymond; Rozowsky, Joel; Cheng, Chao; Kato, Masaomi; Miller, David M; Slack, Frank; Snyder, Michael; Waterston, Robert H; Reinke, Valerie; Gerstein, Mark B.

Genome Res ; 21(2): 276-85, 2011 Feb.

Artigo em Inglês | MEDLINE | ID: mdl-21177971

17.

Interpretation of genomic variants using a unified biological network approach.

Khurana, Ekta; Fu, Yao; Chen, Jieming; Gerstein, Mark.

PLoS Comput Biol ; 9(3): e1002886, 2013.

Artigo em Inglês | MEDLINE | ID: mdl-23505346

18.

VAT: a computational framework to functionally annotate variants in personal genomes within a cloud-computing environment.

Habegger, Lukas; Balasubramanian, Suganthi; Chen, David Z; Khurana, Ekta; Sboner, Andrea; Harmanci, Arif; Rozowsky, Joel; Clarke, Declan; Snyder, Michael; Gerstein, Mark.

Bioinformatics ; 28(17): 2267-9, 2012 Sep 01.

Artigo em Inglês | MEDLINE | ID: mdl-22743228

19.

Impulsivity and Risk-Taking Behavior in School-Going Adolescents.

Soni, Ujjwal; Sharma, Rahul; Sharma, Marisha; Khurana, Ekta; Chopra, Jayesh; Julka, Dhawani; Gaur, Nikhil.

Cureus ; 15(6): e40728, 2023 Jun.

Artigo em Inglês | MEDLINE | ID: mdl-37485185

20.

Recapitulation of patient-specific 3D chromatin conformation using machine learning.

Xu, Duo; Forbes, Andre Neil; Cohen, Sandra; Palladino, Ann; Karadimitriou, Tatiana; Khurana, Ekta.

Cell Rep Methods ; 3(9): 100578, 2023 09 25.

Artigo em Inglês | MEDLINE | ID: mdl-37673071

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Passenger Mutations in More Than 2,500 Cancer Genomes: Overall Molecular Functional Impact and Consequences.

Comprehensive Characterization of Cancer Driver Genes and Mutations.

Comprehensive Characterization of Cancer Driver Genes and Mutations.

Patterns of somatic structural variation in human cancer genomes.

Author Correction: Patterns of somatic structural variation in human cancer genomes.

Systems biology analysis of human genomes points to key pathways conferring spina bifida risk.

CNCDatabase: a database of non-coding cancer drivers.

Loss-of-function tolerance of enhancers in the human genome.

Role of non-coding sequence variants in cancer.

FUN-LDA: A Latent Dirichlet Allocation Model for Predicting Tissue-Specific Functional Effects of Noncoding Variation: Methods and Applications.

MYBL1 rearrangements and MYB amplification in breast adenoid cystic carcinomas lacking the MYB-NFIB fusion gene.

Architecture of the human regulatory network derived from ENCODE data.

Cancer genomics: Hard-to-reach repairs.

Mapping copy number variation by population-scale genome sequencing.

LARVA: an integrative framework for large-scale analysis of recurrent variants in noncoding annotations.

Prediction and characterization of noncoding RNAs in C. elegans by integrating conservation, secondary structure, and high-throughput sequencing and array data.

Interpretation of genomic variants using a unified biological network approach.

VAT: a computational framework to functionally annotate variants in personal genomes within a cloud-computing environment.

Impulsivity and Risk-Taking Behavior in School-Going Adolescents.

Recapitulation of patient-specific 3D chromatin conformation using machine learning.