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: ATM: E1091Vfs*4

PubMed Link: 35835912

Variant Present in the following documents:

• 41588_2022_1121_MOESM3_ESM.xlsx, sheet 4

View BVdb publication page

Detection of germline variants in Brazilian breast cancer patients using multigene panel testing.

Scientific Reports

Guindalini, Rodrigo Santa Cruz RSC; Viana, Danilo Vilela DV; Kitajima, João Paulo Fumio Whitaker JPFW; Rocha, Vinícius Marques VM; López, Rossana Verónica Mendoza RVM; Zheng, Yonglan Y; Freitas, Érika É; Monteiro, Fabiola Paoli Mendes FPM; Valim, André A; Schlesinger, David D; Kok, Fernando F; Olopade, Olufunmilayo I OI; Folgueira, Maria Aparecida Azevedo Koike MAAK

Publication Date: 2022-03-09

Variant appearance in text: ATM: 3272_3273delAG; Glu1091fs

PubMed Link: 35264596

Variant Present in the following documents:

• Main text
• 41598_2022_Article_7383.pdf
• 41598_2022_7383_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.

Molecular Genetics & Genomic Medicine

Zheng, Jianchao J; Zhang, Hongyun H; Banerjee, Santasree S; Li, Yun Y; Zhou, Junyu J; Yang, Qian Q; Tan, Xuemei X; Han, Peng P; Fu, Qinmei Q; Cui, Xiaoli X; Yuan, Yuying Y; Zhang, Meiyan M; Shen, Ruiqin R; Song, Haifeng H; Zhang, Xiuqing X; Zhao, Lijian L; Peng, Zhiyu Z; Wang, Wei W; Yin, Ye Y

Publication Date: 2019-07

Variant appearance in text: ATM: 3270_3271delAG

PubMed Link: 31165590

Variant Present in the following documents:

• MGG3-7-e00748-s004.xlsx, sheet 1

View BVdb publication page