The ICR639 CPG NGS validation series: A resource to assess analytical sensitivity of cancer predisposition gene testing

Por Mahamdallie, Shazia, Ruark, Elise, Holt, Esty, Poyastro-Pearson, Emma, Renwick, Anthony, Strydom, Ann, Seal, Sheila, Rahman, Nazneen
Publicado no Wellcome Open Res (2018)

ICR142 Benchmarker: evaluating, optimising and benchmarking variant calling performance using the ICR142 NGS validation series

Por Ruark, Elise, Holt, Esty, Renwick, Anthony, Münz, Márton, Wakeling, Matthew, Ellard, Sian, Mahamdallie, Shazia, Yost, Shawn, Rahman, Nazneen
Publicado no Wellcome Open Res (2018)

Identification of new Wilms tumour predisposition genes: an exome sequencing study

Por Mahamdallie, Shazia, Yost, Shawn, Poyastro-Pearson, Emma, Holt, Esty, Zachariou, Anna, Seal, Sheila, Elliott, Anna, Clarke, Matthew, Warren-Perry, Margaret, Hanks, Sandra, Anderson, John, Bomken, Simon, Cole, Trevor, Farah, Roula, Furtwaengler, Rhoikos, Glaser, Adam, Grundy, Richard, Hayden, James, Lowis, Steve, Millot, Frédéric, Nicholson, James, Ronghe, Milind, Skeen, Jane, Williams, Denise, Yeomanson, Daniel, Ruark, Elise, Rahman, Nazneen
Publicado no Lancet Child Adolesc Health (2019)

Resolving the full spectrum of human genome variation using Linked-Reads

Por Marks, Patrick, Garcia, Sarah, Barrio, Alvaro Martinez, Belhocine, Kamila, Bernate, Jorge, Bharadwaj, Rajiv, Bjornson, Keith, Catalanotti, Claudia, Delaney, Josh, Fehr, Adrian, Fiddes, Ian T., Galvin, Brendan, Heaton, Haynes, Herschleb, Jill, Hindson, Christopher, Holt, Esty, Jabara, Cassandra B., Jett, Susanna, Keivanfar, Nikka, Kyriazopoulou-Panagiotopoulou, Sofia, Lek, Monkol, Lin, Bill, Lowe, Adam, Mahamdallie, Shazia, Maheshwari, Shamoni, Makarewicz, Tony, Marshall, Jamie, Meschi, Francesca, O'Keefe, Christopher J., Ordonez, Heather, Patel, Pranav, Price, Andrew, Royall, Ariel, Ruark, Elise, Seal, Sheila, Schnall-Levin, Michael, Shah, Preyas, Stafford, David, Williams, Stephen, Wu, Indira, Xu, Andrew Wei, Rahman, Nazneen, MacArthur, Daniel, Church, Deanna M.
Publicado no Genome Res (2019)