Publications:

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: TP53: 1103A>C; His368Pro

PubMed Link: 29945233

Variant Present in the following documents:

• bty518_supplementary_data_s1.xlsx, sheet 9
• bty518_supplementary_data_s3.xlsx, sheet 9
• bty518_supplementary_data_s4.xlsx, sheet 9

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Targeted exome sequencing of Korean triple-negative breast cancer reveals homozygous deletions associated with poor prognosis of adjuvant chemotherapy-treated patients.

Oncotarget

Jeong, Hae Min HM; Kim, Ryong Nam RN; Kwon, Mi Jeong MJ; Oh, Ensel E; Han, Jinil J; Lee, Se Kyung SK; Choi, Jong-Sun JS; Park, Sara S; Nam, Seok Jin SJ; Gong, Gyung Yup GY; Nam, Jin Wu JW; Choi, Doo Ho DH; Lee, Hannah H; Nam, Byung-Ho BH; Choi, Yoon-La YL; Shin, Young Kee YK

Publication Date: 2017-09-22

Variant appearance in text: TP53: 1103A>C; H368P

PubMed Link: 28977883

Variant Present in the following documents:

• Main text
• oncotarget-08-61538.pdf

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Exome Sequencing Identifies Potentially Druggable Mutations in Nasopharyngeal Carcinoma.

Scientific Reports

Chow, Yock Ping YP; Tan, Lu Ping LP; Chai, San Jiun SJ; Abdul Aziz, Norazlin N; Choo, Siew Woh SW; Lim, Paul Vey Hong PV; Pathmanathan, Rajadurai R; Mohd Kornain, Noor Kaslina NK; Lum, Chee Lun CL; Pua, Kin Choo KC; Yap, Yoke Yeow YY; Tan, Tee Yong TY; Teo, Soo Hwang SH; Khoo, Alan Soo-Beng AS; Patel, Vyomesh V

Publication Date: 2017-03-03

Variant appearance in text: TP53: H368P

PubMed Link: 28256603

Variant Present in the following documents:

• srep42980-s2.xls, sheet 7

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iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports

Wang, Meng M; Wei, Liping L

Publication Date: 2016-08-16

Variant appearance in text: TP53: H368P

PubMed Link: 27527004

Variant Present in the following documents:

• srep31321-s5.xls, sheet 1

View BVdb publication page