Novel sequence variants and a high frequency of recurrent polymorphisms in BRCA1 gene in Sri Lankan breast cancer patients and at risk individuals

por De Silva, Wasanthi, Karunanayake, Eric H, Tennekoon, Kamani H, Allen, Marie, Amarasinghe, Indrani, Angunawala, Preethika, Ziard, Mohamed H
Publicado 2008

CNspector: a web-based tool for visualisation and clinical diagnosis of copy number variation from next generation sequencing

por Markham, John F., Yerneni, Satwica, Ryland, Georgina L., Leong, Huei San, Fellowes, Andrew, Thompson, Ella R., De Silva, Wasanthi, Kumar, Amit, Lupat, Richard, Li, Jason, Ellul, Jason, Fox, Stephen, Dickinson, Michael, Papenfuss, Anthony T., Blombery, Piers
Publicado 2019

Publisher Correction: CNspector: a web-based tool for visualisation and clinical diagnosis of copy number variation from next generation sequencing

por Markham, John F., Yerneni, Satwica, Ryland, Georgina L., Leong, Huei San, Fellowes, Andrew, Thompson, Ella R., De Silva, Wasanthi, Kumar, Amit, Lupat, Richard, Li, Jason, Ellul, Jason, Fox, Stephen, Dickinson, Michael, Papenfuss, Anthony T., Blombery, Piers
Publicado 2020

One in seven pathogenic variants can be challenging to detect by NGS: an analysis of 450,000 patients with implications for clinical sensitivity and genetic test implementation

por Lincoln, Stephen E., Hambuch, Tina, Zook, Justin M., Bristow, Sara L., Hatchell, Kathryn, Truty, Rebecca, Kennemer, Michael, Shirts, Brian H., Fellowes, Andrew, Chowdhury, Shimul, Klee, Eric W., Mahamdallie, Shazia, Cleveland, Megan H., Vallone, Peter M., Ding, Yan, Seal, Sheila, DeSilva, Wasanthi, Tomson, Farol L., Huang, Catherine, Garlick, Russell K., Rahman, Nazneen, Salit, Marc, Kingsmore, Stephen F., Ferber, Matthew J., Aradhya, Swaroop, Nussbaum, Robert L.
Publicado 2021