Publications:

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Longitudinal dynamics of clonal hematopoiesis identifies gene-specific fitness effects.

Nature Medicine

Robertson, Neil A NA; Latorre-Crespo, Eric E; Terradas-Terradas, Maria M; Lemos-Portela, Jorge J; Purcell, Alison C AC; Livesey, Benjamin J BJ; Hillary, Robert F RF; Murphy, Lee L; Fawkes, Angie A; MacGillivray, Louise L; Copland, Mhairi M; Marioni, Riccardo E RE; Marsh, Joseph A JA; Harris, Sarah E SE; Cox, Simon R SR; Deary, Ian J IJ; Schumacher, Linus J LJ; Kirschner, Kristina K; Chandra, Tamir T

Publication Date: 2022-07

Variant appearance in text: TET2: 961C>T; Q321*

PubMed Link: 35788175

Variant Present in the following documents:

• 41591_2022_1883_MOESM3_ESM.xlsx, sheet 4

View BVdb publication page

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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

Publication Date: 2022-06

Variant appearance in text: TET2: Q321X

PubMed Link: 35650444

Variant Present in the following documents:

• 41586_2022_4785_MOESM11_ESM.xlsx, sheet 1
• 41586_2022_4785_MOESM9_ESM.xlsx, sheet 1
• 41586_2022_4785_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Comprehensive Analysis of Acquired Genetic Variants and Their Prognostic Impact in Systemic Mastocytosis.

Cancers

González-López, Oscar O; Muñoz-González, Javier I JI; Orfao, Alberto A; Álvarez-Twose, Iván I; García-Montero, Andrés C AC

Publication Date: 2022-05-18

Variant appearance in text: TET2: Q321*

PubMed Link: 35626091

Variant Present in the following documents:

• cancers-14-02487.pdf

View BVdb publication page

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Predictive Biomarkers for Immune Checkpoint Inhibitors in Metastatic Breast Cancer.

Cancer Medicine

Sivapiragasam, Abirami A; Ashok Kumar, Prashanth P; Sokol, Ethan S ES; Albacker, Lee A LA; Killian, Jonathan K JK; Ramkissoon, Shakti H SH; Huang, Richard S P RSP; Severson, Eric A EA; Brown, Charlotte A CA; Danziger, Natalie N; McGregor, Kimberly K; Ross, Jeffrey S JS

Publication Date: 2021-01

Variant appearance in text: TET2: Q321*

PubMed Link: 33314633

Variant Present in the following documents:

• CAM4-10-53-s002.xlsx, sheet 1

View BVdb publication page

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The Medical Genome Reference Bank contains whole genome and phenotype data of 2570 healthy elderly.

Nature Communications

Pinese, Mark M; Lacaze, Paul P; Rath, Emma M EM; Stone, Andrew A; Brion, Marie-Jo MJ; Ameur, Adam A; Nagpal, Sini S; Puttick, Clare C; Husson, Shane S; Degrave, Dmitry D; Cristina, Tina Navin TN; Kahl, Vivian F S VFS; Statham, Aaron L AL; Woods, Robyn L RL; McNeil, John J JJ; Riaz, Moeen M; Barr, Margo M; Nelson, Mark R MR; Reid, Christopher M CM; Murray, Anne M AM; Shah, Raj C RC; Wolfe, Rory R; Atkins, Joshua R JR; Fitzsimmons, Chantel C; Cairns, Heath M HM; Green, Melissa J MJ; Carr, Vaughan J VJ; Cowley, Mark J MJ; Pickett, Hilda A HA; James, Paul A PA; Powell, Joseph E JE; Kaplan, Warren W; Gibson, Greg G; Gyllensten, Ulf U; Cairns, Murray J MJ; McNamara, Martin M; Dinger, Marcel E ME; Thomas, David M DM

Publication Date: 2020-01-23

Variant appearance in text: TET2: Gln321Ter

PubMed Link: 31974348

Variant Present in the following documents:

• 41467_2019_14079_MOESM4_ESM.xlsx, sheet 2

View BVdb publication page

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High-intensity sequencing reveals the sources of plasma circulating cell-free DNA variants.

Nature Medicine

Razavi, Pedram P; Li, Bob T BT; Brown, David N DN; Jung, Byoungsok B; Hubbell, Earl E; Shen, Ronglai R; Abida, Wassim W; Juluru, Krishna K; De Bruijn, Ino I; Hou, Chenlu C; Venn, Oliver O; Lim, Raymond R; Anand, Aseem A; Maddala, Tara T; Gnerre, Sante S; Vijaya Satya, Ravi R; Liu, Qinwen Q; Shen, Ling L; Eattock, Nicholas N; Yue, Jeanne J; Blocker, Alexander W AW; Lee, Mark M; Sehnert, Amy A; Xu, Hui H; Hall, Megan P MP; Santiago-Zayas, Angie A; Novotny, William F WF; Isbell, James M JM; Rusch, Valerie W VW; Plitas, George G; Heerdt, Alexandra S AS; Ladanyi, Marc M; Hyman, David M DM; Jones, David R DR; Morrow, Monica M; Riely, Gregory J GJ; Scher, Howard I HI; Rudin, Charles M CM; Robson, Mark E ME; Diaz, Luis A LA; Solit, David B DB; Aravanis, Alexander M AM; Reis-Filho, Jorge S JS

Publication Date: 2019-12

Variant appearance in text: TET2: 961C>T; Gln321Ter; rs774586356

PubMed Link: 31768066

Variant Present in the following documents:

• NIHMS1541314-supplement-1541314_SourceDataExtFig8.xlsx, sheet 1
• NIHMS1541314-supplement-1541314_Sup_Tab.xlsx, sheet 5

View BVdb publication page

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Implications of mutational spectrum in myelodysplastic syndromes based on targeted next-generation sequencing.

Oncotarget

Xu, Yuanyuan Y; Li, Yan Y; Xu, Qingyu Q; Chen, Yuelong Y; Lv, Na N; Jing, Yu Y; Dou, Liping L; Bo, Jian J; Hou, Guangyuan G; Guo, Jing J; Wang, Xiuli X; Wang, Lili L; Li, Yonghui Y; Chen, Chongjian C; Yu, Li L

Publication Date: 2017-10-10

Variant appearance in text: TET2: 961C>T; Q321X

PubMed Link: 29137279

Variant Present in the following documents:

• oncotarget-08-82475-s003.xls, sheet 1

View BVdb publication page

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