Publications:

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

Publication Date: 2022-08

Variant appearance in text: TET2: K1208*

PubMed Link: 35835912

Variant Present in the following documents:

• 41588_2022_1121_MOESM3_ESM.xlsx, sheet 4

View BVdb publication page

PRR14L mutations are associated with chromosome 22 acquired uniparental disomy, age-related clonal hematopoiesis and myeloid neoplasia.

Leukemia

Chase, Andrew A; Pellagatti, Andrea A; Singh, Shalini S; Score, Joannah J; Tapper, William J WJ; Lin, Feng F; Hoade, Yvette Y; Bryant, Catherine C; Trim, Nicola N; Yip, Bon Ham BH; Zoi, Katerina K; Rasi, Chiara C; Forsberg, Lars A LA; Dumanski, Jan P JP; Boultwood, Jacqueline J; Cross, Nicholas C P NCP

Publication Date: 2019-05

Variant appearance in text: TET2: K1208*

PubMed Link: 30573780

Variant Present in the following documents:

• Main text
• emss-79910.pdf

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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: TET2: 3622A>T; Lys1208*

PubMed Link: 29945233

Variant Present in the following documents:

• bty518_supplementary_data_s2.xlsx, sheet 2

View BVdb publication page