Publications:

Results of the UK NEQAS for Molecular Genetics reference sample analysis.

Journal Of Clinical Pathology

Richman, Susan D SD; Fairley, Jennifer J; Hall, Jacqueline A JA; Nataraj, Nakul N; Bhide, Mrudul M; Lau, Aron A; Norman, Kara L KL; Deans, Zandra C ZC

Publication Date: 2018-11

Variant appearance in text: KIT: 1727T>A

PubMed Link: 30030291

Variant Present in the following documents:

• Main text
• jclinpath-2018-205277.pdf

View BVdb publication page

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: KIT: 1727T>A; Leu576His

PubMed Link: 29945233

Variant Present in the following documents:

• bty518_supplementary_data_s6.xlsx, sheet 9

View BVdb publication page