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: 920T>G; Leu307Arg; rs145125867
Evaluating the breast cancer predisposition role of rare variants in genes associated with low-penetrance breast cancer risk SNPs.
Breast Cancer Research : Bcr
Li, Na N; Rowley, Simone M SM; Thompson, Ella R ER; McInerny, Simone S; Devereux, Lisa L; Amarasinghe, Kaushalya C KC; Zethoven, Magnus M; Lupat, Richard R; Goode, David D; Li, Jason J; Trainer, Alison H AH; Gorringe, Kylie L KL; James, Paul A PA; Campbell, Ian G IG
Publication Date: 2018-01-09
Variant appearance in text: TET2: 920T>G; Leu307Arg; rs145125867
Genomic analyses reveal recurrent mutations in epigenetic modifiers and the JAK-STAT pathway in Sézary syndrome.
Nature Communications
Kiel, Mark J MJ; Sahasrabuddhe, Anagh A AA; Rolland, Delphine C M DCM; Velusamy, Thirunavukkarasu T; Chung, Fuzon F; Schaller, Matthew M; Bailey, Nathanael G NG; Betz, Bryan L BL; Miranda, Roberto N RN; Porcu, Pierluigi P; Byrd, John C JC; Medeiros, L Jeffrey LJ; Kunkel, Steven L SL; Bahler, David W DW; Lim, Megan S MS; Elenitoba-Johnson, Kojo S J KSJ
Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.
Plos One
Bodian, Dale L DL; McCutcheon, Justine N JN; Kothiyal, Prachi P; Huddleston, Kathi C KC; Iyer, Ramaswamy K RK; Vockley, Joseph G JG; Niederhuber, John E JE
Publication Date: 2014
Variant appearance in text: TET2: L307R; rs145125867