Identification of antigenic epitopes recognized by tumor infiltrating lymphocytes in high grade serous ovarian cancer by multi-omics profiling of the auto-antigen repertoire.
Cancer Immunology, Immunotherapy : Cii
Millar, Douglas G DG; Yang, S Y Cindy SYC; Sayad, Azin A; Zhao, Qingchuan Q; Nguyen, Linh T LT; Warner, Kathrin K; Sangster, Ami G AG; Nakatsugawa, Munehide M; Murata, Kenji K; Wang, Ben X BX; Shaw, Patricia P; Clarke, Blaise B; Bernardini, Marcus Q MQ; Pugh, Trevor T; Thibault, Pierre P; Hirano, Naoto N; Perreault, Claude C; Ohashi, Pamela S PS
A Phase II Trial of Guadecitabine plus Atezolizumab in Metastatic Urothelial Carcinoma Progressing after Initial Immune Checkpoint Inhibitor Therapy.
Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Jang, H Josh HJ; Hostetter, Galen G; MacFarlane, Alexander W AW; Madaj, Zachary Z; Ross, Eric A EA; Hinoue, Toshinori T; Kulchycki, Justin R JR; Burgos, Ryan S RS; Tafseer, Mahvish M; Alpaugh, R Katherine RK; Schwebel, Candice L CL; Kokate, Rutika R; Geynisman, Daniel M DM; Zibelman, Matthew R MR; Ghatalia, Pooja P; Nichols, Peter W PW; Chung, Woonbok W; Madzo, Jozef J; Hahn, Noah M NM; Quinn, David I DI; Issa, Jean-Pierre J JJ; Topper, Michael J MJ; Baylin, Stephen B SB; Shen, Hui H; Campbell, Kerry S KS; Jones, Peter A PA; Plimack, Elizabeth R ER
Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.
Cancer Research Communications
White, Jason A JA; Kaninjing, Ernest T ET; Adeniji, Kayode A KA; Jibrin, Paul P; Obafunwa, John O JO; Ogo, Chidiebere N CN; Mohammed, Faruk F; Popoola, Ademola A; Fatiregun, Omolara A OA; Oluwole, Olabode P OP; Karanam, Balasubramanyam B; Elhussin, Isra I; Ambs, Stefan S; Tang, Wei W; Davis, Melissa M; Polak, Paz P; Campbell, Moray J MJ; Brignole, Kathryn R KR; Rotimi, Solomon O SO; Dean-Colomb, Windy W; Odedina, Folake T FT; Martin, Damali N DN; Yates, Clayton C
Publication Date: 2022-09
Variant appearance in text: ATM: 2572T>C; Phe858Leu; rs1800056
Culture media composition influences patient-derived organoids ability to predict therapeutic response in gastrointestinal cancers.
Jci Insight
Hogenson, Tara L TL; Xie, Hao H; Phillips, William J WJ; Toruner, Merih D MD; Li, Jenny J JJ; Horn, Isaac P IP; Kennedy, Devin J DJ; Almada, Luciana L LL; Marks, David L DL; Carr, Ryan M RM; Toruner, Murat M; Sigafoos, Ashley N AN; Koenig-Kappes, Amanda N AN; Olson, Rachel Lo RL; Tolosa, Ezequiel J EJ; Zhang, Cheng C; Li, Hu H; Doles, Jason D JD; Bleeker, Jonathan J; Barrett, Michael T MT; Boyum, James H JH; Kipp, Benjamin R BR; Mahipal, Amit A; Hubbard, Joleen M JM; Scheffler Hanson, Temperance J TJ; Petersen, Gloria M GM; Dasari, Surendra S; Oberg, Ann L AL; Truty, Mark J MJ; Graham, Rondell P RP; Levy, Michael J MJ; Zhu, Mojun M; Billadeau, Daniel D DD; Adjei, Alex A AA; Dusetti, Nelson N; Iovanna, Juan L JL; Bekaii-Saab, Tanios S TS; Ma, Wen Wee WW; Fernandez-Zapico, Martin E ME
Genome-wide analyses of 200,453 individuals yield new insights into the causes and consequences of clonal hematopoiesis.
Nature Genetics
Kar, Siddhartha P SP; Quiros, Pedro M PM; Gu, Muxin M; Jiang, Tao T; Mitchell, Jonathan J; Langdon, Ryan R; Iyer, Vivek V; Barcena, Clea C; Vijayabaskar, M S MS; Fabre, Margarete A MA; Carter, Paul P; Petrovski, Slavé S; Burgess, Stephen S; Vassiliou, George S GS
The longitudinal dynamics and natural history of clonal haematopoiesis.
Nature
Fabre, Margarete A MA; de Almeida, José Guilherme JG; Fiorillo, Edoardo E; Mitchell, Emily E; Damaskou, Aristi A; Rak, Justyna J; Orrù, Valeria V; Marongiu, Michele M; Chapman, Michael Spencer MS; Vijayabaskar, M S MS; Baxter, Joanna J; Hardy, Claire C; Abascal, Federico F; Williams, Nicholas N; Nangalia, Jyoti J; Martincorena, Iñigo I; Campbell, Peter J PJ; McKinney, Eoin F EF; Cucca, Francesco F; Gerstung, Moritz M; Vassiliou, George S GS
Detection of genetic mutations in patients with breast cancer from Saudi Arabia using Ion AmpliSeq™ Cancer Hotspot Panel v.2.0.
Biomedical Reports
Messaoudi, Safia A SA; Al Sharhan, Nourah A NA; Alharthi, Bandar B; Babu, Saranya R SR; Alsaleh, Abrar B AB; Alasiri, Alanoud M AM; Assidi, Mourad M; Buhmeida, Abdelbaset A; Almawi, Wassim Y WY
Publication Date: 2022-04
Variant appearance in text: ATM: 2572T>C; Phe858Leu
Response prediction in patients with gastric and esophagogastric adenocarcinoma under neoadjuvant chemotherapy using targeted gene expression analysis and next-generation sequencing in pre-therapeutic biopsies.
Journal Of Cancer Research And Clinical Oncology
Kleo, Karsten K; Jovanovic, Vladimir M VM; Arndold, Alexander A; Lehmann, Annika A; Lammert, Hedwig H; Berg, Erika E; Harloff, Hannah H; Treese, Christoph C; Hummel, Michael M; Daum, Severin S
Publication Date: 2022-03-05
Variant appearance in text: ATM: 2572T>C; F858L; rs1800056
Serial monitoring of genomic alterations in circulating tumor cells of ER-positive/HER2-negative advanced breast cancer: feasibility of precision oncology biomarker detection.
Molecular Oncology
Cani, Andi K AK; Dolce, Emily M EM; Darga, Elizabeth P EP; Hu, Kevin K; Liu, Chia-Jen CJ; Pierce, Jackie J; Bradbury, Kieran K; Kilgour, Elaine E; Aung, Kimberly K; Schiavon, Gaia G; Carroll, Danielle D; Carr, T Hedley TH; Klinowska, Teresa T; Lindemann, Justin J; Marshall, Gayle G; Rowlands, Vicky V; Harrington, Elizabeth A EA; Barrett, J Carl JC; Sathiyayogan, Nitharsan N; Morrow, Christopher C; Sero, Valeria V; Armstrong, Anne C AC; Baird, Richard R; Hamilton, Erika E; Im, Seock-Ah SA; Jhaveri, Komal K; Patel, Manish R MR; Dive, Caroline C; Tomlins, Scott A SA; Udager, Aaron M AM; Hayes, Daniel F DF; Paoletti, Costanza C
Pancreatic Cancer-Related Mutational Burden Is Not Increased in a Patient Cohort With Clinically Severe Chronic Pancreatitis.
Clinical And Translational Gastroenterology
Cowan, Robert W RW; Pratt, Erica D ED; Kang, Jin Muk JM; Zhao, Jun J; Wilhelm, Joshua J JJ; Abdulla, Muhamad M; Qiao, Edmund M EM; Brennan, Luke P LP; Ulintz, Peter J PJ; Bellin, Melena D MD; Rhim, Andrew D AD
Publication Date: 2021-11-18
Variant appearance in text: ATM: 2572T>C; F858L; rs1800056
Genomic mutation profile in progressive chronic lymphocytic leukemia patients prior to first-line chemoimmunotherapy with FCR and rituximab maintenance (REM).
Plos One
González-Rincón, Julia J; Garcia-Vela, José A JA; Gómez, Sagrario S; Fernández-Cuevas, Belén B; Nova-Gurumeta, Sara S; Pérez-Sanz, Nuria N; Alcoceba, Miguel M; González, Marcos M; Anguita, Eduardo E; López-Jiménez, Javier J; González-Barca, Eva E; Yáñez, Lucrecia L; Pérez-Persona, Ernesto E; de la Serna, Javier J; Fernández-Zarzoso, Miguel M; Deben, Guillermo G; Peñalver, Francisco J FJ; Fernández, María C MC; de Oteyza, Jaime Pérez JP; Andreu, M Ángeles MÁ; Ruíz-Guinaldo, M Ángeles MÁ; Paz-Arias, Raquel R; García-Malo, M Dolores MD; Recasens, Valle V; Collado, Rosa R; Córdoba, Raúl R; Navarro-Matilla, Belén B; Sánchez-Beato, Margarita M; García-Marco, José A JA
Mutational landscape of marginal zone B-cell lymphomas of various origin: organotypic alterations and diagnostic potential for assignment of organ origin.
Virchows Archiv : An International Journal Of Pathology
Vela, Visar V; Juskevicius, Darius D; Dirnhofer, Stefan S; Menter, Thomas T; Tzankov, Alexandar A
Publication Date: 2022-02
Variant appearance in text: ATM: 2572T>C; F858L; rs1800056
Integrated genomic-metabolic classification of acute myeloid leukemia defines a subgroup with NPM1 and cohesin/DNA damage mutations.
Leukemia
Simonetti, Giorgia G; Mengucci, Carlo C; Padella, Antonella A; Fonzi, Eugenio E; Picone, Gianfranco G; Delpino, Claudio C; Nanni, Jacopo J; De Tommaso, Rossella R; Franchini, Eugenia E; Papayannidis, Cristina C; Marconi, Giovanni G; Pazzaglia, Martina M; Perricone, Margherita M; Scarpi, Emanuela E; Fontana, Maria Chiara MC; Bruno, Samantha S; Tebaldi, Michela M; Ferrari, Anna A; Bochicchio, Maria Teresa MT; Ghelli Luserna Di Rorà, Andrea A; Ghetti, Martina M; Napolitano, Roberta R; Astolfi, Annalisa A; Baldazzi, Carmen C; Guadagnuolo, Viviana V; Ottaviani, Emanuela E; Iacobucci, Ilaria I; Cavo, Michele M; Castellani, Gastone G; Haferlach, Torsten T; Remondini, Daniel D; Capozzi, Francesco F; Martinelli, Giovanni G
Interpreting Sequence Variation in PDAC-Predisposing Genes Using a Multi-Tier Annotation Approach Performed at the Gene, Patient, and Cohort Level.
Frontiers In Oncology
Zimmermann, Michael T MT; Mathison, Angela J AJ; Stodola, Tim T; Evans, Douglas B DB; Abrudan, Jenica L JL; Demos, Wendy W; Tschannen, Michael M; Aldakkak, Mohammed M; Geurts, Jennifer J; Lomberk, Gwen G; Tsai, Susan S; Urrutia, Raul R
Publication Date: 2021
Variant appearance in text: ATM: 2572T>C; Phe858Leu
Cervical malignant mixed mesonephric tumour: A case report with local recurrence after six-years and next-generation sequencing analysis with particular reference to the ataxia telangiectasia mutated gene.
Experimental And Therapeutic Medicine
Marani, Carla C; Akaev, Iolia I; Yeoh, Chit Cheng CC; Walsh, Elizabeth E; Rahimi, Siavash S
Publication Date: 2021-04
Variant appearance in text: ATM: 2572T>C; Phe858Leu
Prevalence of germline pathogenic variants in 22 cancer susceptibility genes in Swedish pediatric cancer patients.
Scientific Reports
von Stedingk, Kristoffer K; Stjernfelt, Karl-Johan KJ; Kvist, Anders A; Wahlström, Cecilia C; Kristoffersson, Ulf U; Stenmark-Askmalm, Marie M; Wiebe, Thomas T; Hjorth, Lars L; Koster, Jan J; Olsson, Håkan H; Øra, Ingrid I
Publication Date: 2021-03-05
Variant appearance in text: ATM: 2572T>C; Phe858Leu; rs1800056
Molecular genomic features associated with in vitro response of the NCI-60 cancer cell line panel to natural products.
Molecular Oncology
Krushkal, Julia J; Negi, Simarjeet S; Yee, Laura M LM; Evans, Jason R JR; Grkovic, Tanja T; Palmisano, Alida A; Fang, Jianwen J; Sankaran, Hari H; McShane, Lisa M LM; Zhao, Yingdong Y; O'Keefe, Barry R BR
A phase I dose-escalation study of enzalutamide in combination with the AKT inhibitor AZD5363 (capivasertib) in patients with metastatic castration-resistant prostate cancer.
Annals Of Oncology : Official Journal Of The European Society For Medical Oncology
Kolinsky, M P MP; Rescigno, P P; Bianchini, D D; Zafeiriou, Z Z; Mehra, N N; Mateo, J J; Michalarea, V V; Riisnaes, R R; Crespo, M M; Figueiredo, I I; Miranda, S S; Nava Rodrigues, D D; Flohr, P P; Tunariu, N N; Banerji, U U; Ruddle, R R; Sharp, A A; Welti, J J; Lambros, M M; Carreira, S S; Raynaud, F I FI; Swales, K E KE; Plymate, S S; Luo, J J; Tovey, H H; Porta, N N; Slade, R R; Leonard, L L; Hall, E E; de Bono, J S JS
Germline variants in DNA repair genes associated with hereditary breast and ovarian cancer syndrome: analysis of a 21 gene panel in the Brazilian population.
Bmc Medical Genomics
da Costa E Silva Carvalho, Simone S; Cury, Nathalia Moreno NM; Brotto, Danielle Barbosa DB; de Araujo, Luiza Ferreira LF; Rosa, Reginaldo Cruz Alves RCA; Texeira, Lorena Alves LA; Plaça, Jessica Rodrigues JR; Marques, Adriana Aparecida AA; Peronni, Kamila Chagas KC; Ruy, Patricia de Cássia PC; Molfetta, Greice Andreotti GA; Moriguti, Julio Cesar JC; Carraro, Dirce Maria DM; Palmero, Edenir Inêz EI; Ashton-Prolla, Patricia P; de Faria Ferraz, Victor Evangelista VE; Silva, Wilson Araujo WA
Publication Date: 2020-02-10
Variant appearance in text: ATM: Phe858Leu; rs1800056
Genomics of lethal prostate cancer at diagnosis and castration resistance.
The Journal Of Clinical Investigation
Mateo, Joaquin J; Seed, George G; Bertan, Claudia C; Rescigno, Pasquale P; Dolling, David D; Figueiredo, Ines I; Miranda, Susana S; Nava Rodrigues, Daniel D; Gurel, Bora B; Clarke, Matthew M; Atkin, Mark M; Chandler, Rob R; Messina, Carlo C; Sumanasuriya, Semini S; Bianchini, Diletta D; Barrero, Maialen M; Petermolo, Antonella A; Zafeiriou, Zafeiris Z; Fontes, Mariane M; Perez-Lopez, Raquel R; Tunariu, Nina N; Fulton, Ben B; Jones, Robert R; McGovern, Ursula U; Ralph, Christy C; Varughese, Mohini M; Parikh, Omi O; Jain, Suneil S; Elliott, Tony T; Sandhu, Shahneen S; Porta, Nuria N; Hall, Emma E; Yuan, Wei W; Carreira, Suzanne S; de Bono, Johann S JS
Publication Date: 2020-04-01
Variant appearance in text: ATM: 2572T>C; F858L; rs1800056
Development and validation of a targeted gene sequencing panel for application to disparate cancers.
Scientific Reports
McCabe, Mark J MJ; Gauthier, Marie-Emilie A MA; Chan, Chia-Ling CL; Thompson, Tanya J TJ; De Sousa, Sunita M C SMC; Puttick, Clare C; Grady, John P JP; Gayevskiy, Velimir V; Tao, Jiang J; Ying, Kevin K; Cipponi, Arcadi A; Deng, Niantao N; Swarbrick, Alex A; Thomas, Melissa L ML; Lord, Reginald V RV; Johns, Amber L AL; Kohonen-Corish, Maija M; O'Toole, Sandra A SA; Clark, Jonathan J; Mueller, Simon A SA; Gupta, Ruta R; McCormack, Ann I AI; Dinger, Marcel E ME; Cowley, Mark J MJ; ,
Genetic dynamics in untreated CLL patients with either stable or progressive disease: a longitudinal study.
Journal Of Hematology & Oncology
Ramassone, Alice A; D'Argenio, Andrea A; Veronese, Angelo A; Basti, Alessio A; Soliman, Shimaa Hassan AbdelAziz SHA; Volinia, Stefano S; Bassi, Cristian C; Pagotto, Sara S; Ferracin, Manuela M; Lupini, Laura L; Saccenti, Elena E; Balatti, Veronica V; Pepe, Felice F; Rassenti, Laura Z LZ; Innocenti, Idanna I; Autore, Francesco F; Marzetti, Laura L; Mariani-Costantini, Renato R; Kipps, Thomas J TJ; Negrini, Massimo M; Laurenti, Luca L; Visone, Rosa R
NF1 patient missense variants predict a role for ATM in modifying neurofibroma initiation.
Acta Neuropathologica
Yu, Yanan Y; Choi, Kwangmin K; Wu, Jianqiang J; Andreassen, Paul R PR; Dexheimer, Phillip J PJ; Keddache, Mehdi M; Brems, Hilde H; Spinner, Robert J RJ; Cancelas, Jose A JA; Martin, Lisa J LJ; Wallace, Margaret R MR; Legius, Eric E; Vogel, Kristine S KS; Ratner, Nancy N
DNA sequencing of cytopathologically inconclusive EUS-FNA from solid pancreatic lesions suspicious for malignancy confirms EUS diagnosis.
Endoscopic Ultrasound
Plougmann, Julie Isabelle JI; Klausen, Pia P; Toxvaerd, Anders A; Abedi, Armita Armina AA; Kovacevic, Bojan B; Karstensen, John Gásdal JG; Poulsen, Tim Svenstrup TS; Kalaitzakis, Evangelos E; Høgdall, Estrid E; Vilmann, Peter P
False-negative errors in next-generation sequencing contribute substantially to inconsistency of mutation databases.
Plos One
Kim, Young-Ho YH; Song, Yura Y; Kim, Jong-Kwang JK; Kim, Tae-Min TM; Sim, Hye Won HW; Kim, Hyung-Lae HL; Jang, Hyonchol H; Kim, Young-Woo YW; Hong, Kyeong-Man KM
REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.
Scientific Reports
Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D
Germline and somatic mutations in patients with multiple primary melanomas: a next generation sequencing study.
Bmc Cancer
Casula, Milena M; Paliogiannis, Panagiotis P; Ayala, Fabrizio F; De Giorgi, Vincenzo V; Stanganelli, Ignazio I; Mandalà, Mario M; Colombino, Maria M; Manca, Antonella A; Sini, Maria Cristina MC; Caracò, Corrado C; Ascierto, Paolo Antonio PA; Satta, Rosanna Rita RR; , ; Lissia, Amelia A; Cossu, Antonio A; Palmieri, Giuseppe G; ,
Publication Date: 2019-08-05
Variant appearance in text: ATM: 2572T>C; Phe858Leu
A Three-dimensional Ex Vivo Viability Assay Reveals a Strong Correlation Between Response to Targeted Inhibitors and Mutation Status in Melanoma Lymph Node Metastases.
Translational Oncology
Flørenes, Vivi Ann VA; Flem-Karlsen, Karine K; McFadden, Erin E; Bergheim, Inger Riise IR; Nygaard, Vigdis V; Nygård, Vegard V; Farstad, Inger Nina IN; Øy, Geir Frode GF; Emilsen, Elisabeth E; Giller-Fleten, Karianne K; Ree, Anne Hansen AH; Flatmark, Kjersti K; Gullestad, Hans Petter HP; Hermann, Robert R; Ryder, Truls T; Wernhoff, Patrik P; Mælandsmo, Gunhild Mari GM
A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.
Scientific Reports
Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW
Identifying Extrinsic versus Intrinsic Drivers of Variation in Cell Behavior in Human iPSC Lines from Healthy Donors.
Cell Reports
Vigilante, Alessandra A; Laddach, Anna A; Moens, Nathalie N; Meleckyte, Ruta R; Leha, Andreas A; Ghahramani, Arsham A; Culley, Oliver J OJ; Kathuria, Annie A; Hurling, Chloe C; Vickers, Alice A; Wiseman, Erika E; Tewary, Mukul M; Zandstra, Peter W PW; , ; Durbin, Richard R; Fraternali, Franca F; Stegle, Oliver O; Birney, Ewan E; Luscombe, Nicholas M NM; Danovi, Davide D; Watt, Fiona M FM
Serial patient-derived orthotopic xenografting of adenoid cystic carcinomas recapitulates stable expression of phenotypic alterations and innervation.
Ebiomedicine
Cornett, Ashley A; Athwal, Harleen K HK; Hill, Emily E; Murphy, George G; Yeoh, Kenji K; Moskaluk, Christopher A CA; Witt, Robert L RL; D'Silva, Nisha J NJ; Agarwal, Seema S; Lombaert, Isabelle M A IMA
Targeted mutation detection in breast cancer using MammaSeq™.
Breast Cancer Research : Bcr
Smith, Nicholas G NG; Gyanchandani, Rekha R; Shah, Osama S OS; Gurda, Grzegorz T GT; Lucas, Peter C PC; Hartmaier, Ryan J RJ; Brufsky, Adam M AM; Puhalla, Shannon S; Bahreini, Amir A; Kota, Karthik K; Wald, Abigail I AI; Nikiforov, Yuri E YE; Nikiforova, Marina N MN; Oesterreich, Steffi S; Lee, Adrian V AV
Genetic and transcriptional evolution alters cancer cell line drug response.
Nature
Ben-David, Uri U; Siranosian, Benjamin B; Ha, Gavin G; Tang, Helen H; Oren, Yaara Y; Hinohara, Kunihiko K; Strathdee, Craig A CA; Dempster, Joshua J; Lyons, Nicholas J NJ; Burns, Robert R; Nag, Anwesha A; Kugener, Guillaume G; Cimini, Beth B; Tsvetkov, Peter P; Maruvka, Yosef E YE; O'Rourke, Ryan R; Garrity, Anthony A; Tubelli, Andrew A AA; Bandopadhayay, Pratiti P; Tsherniak, Aviad A; Vazquez, Francisca F; Wong, Bang B; Birger, Chet C; Ghandi, Mahmoud M; Thorner, Aaron R AR; Bittker, Joshua A JA; Meyerson, Matthew M; Getz, Gad G; Beroukhim, Rameen R; Golub, Todd R TR
Publication Date: 2018-08
Variant appearance in text: ATM: 2572T>C; F858L; rs1800056
Somatic Mutations in Renal Cyst Epithelium in Autosomal Dominant Polycystic Kidney Disease.
Journal Of The American Society Of Nephrology : Jasn
Tan, Adrian Y AY; Zhang, Tuo T; Michaeel, Alber A; Blumenfeld, Jon J; Liu, Genyan G; Zhang, Wanying W; Zhang, Zhengmao Z; Zhu, Yi Y; Rennert, Lior L; Martin, Che C; Xiang, Jenny J; Salvatore, Steven P SP; Robinson, Brian D BD; Kapur, Sandip S; Donahue, Stephanie S; Bobb, Warren O WO; Rennert, Hanna H
Publication Date: 2018-08
Variant appearance in text: ATM: 2572T>C; Phe858Leu
Insights into clonal haematopoiesis from 8,342 mosaic chromosomal alterations.
Nature
Loh, Po-Ru PR; Genovese, Giulio G; Handsaker, Robert E RE; Finucane, Hilary K HK; Reshef, Yakir A YA; Palamara, Pier Francesco PF; Birmann, Brenda M BM; Talkowski, Michael E ME; Bakhoum, Samuel F SF; McCarroll, Steven A SA; Price, Alkes L AL
appreci8: a pipeline for precise variant calling integrating 8 tools.
Bioinformatics (Oxford, England)
Sandmann, Sarah S; Karimi, Mohsen M; de Graaf, Aniek O AO; Rohde, Christian C; Göllner, Stefanie S; Varghese, Julian J; Ernsting, Jan J; Walldin, Gunilla G; van der Reijden, Bert A BA; Müller-Tidow, Carsten C; Malcovati, Luca L; Hellström-Lindberg, Eva E; Jansen, Joop H JH; Dugas, Martin M
Publication Date: 2018-12-15
Variant appearance in text: ATM: 2572T>C; Phe858Leu; rs1800056
Validation of CZECANCA (CZEch CAncer paNel for Clinical Application) for targeted NGS-based analysis of hereditary cancer syndromes.
Plos One
Soukupova, Jana J; Zemankova, Petra P; Lhotova, Klara K; Janatova, Marketa M; Borecka, Marianna M; Stolarova, Lenka L; Lhota, Filip F; Foretova, Lenka L; Machackova, Eva E; Stranecky, Viktor V; Tavandzis, Spiros S; Kleiblova, Petra P; Vocka, Michal M; Hartmannova, Hana H; Hodanova, Katerina K; Kmoch, Stanislav S; Kleibl, Zdenek Z