The ICR639 CPG NGS validation series: A resource to assess analytical sensitivity of cancer predisposition gene testing
Mahamdallie, Shazia, Ruark, Elise, Holt, Esty, Poyastro-Pearson, Emma, Renwick, Anthony, Strydom, Ann, Seal, Sheila, Rahman, Nazneen
Published in Wellcome open research (2018)
Published in Wellcome open research (2018)
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ICR142 Benchmarker: evaluating, optimising and benchmarking variant calling performance using the ICR142 NGS validation series
Ruark, Elise, Holt, Esty, Renwick, Anthony, Münz, Márton, Wakeling, Matthew, Ellard, Sian, Mahamdallie, Shazia, Yost, Shawn, Rahman, Nazneen
Published in Wellcome open research (2018)
Published in Wellcome open research (2018)
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Journal Article
canSAR: update to the cancer translational research and drug discovery knowledgebase
Mitsopoulos, Costas, Di Micco, Patrizio, Fernandez, Eloy Villasclaras, Dolciami, Daniela, Holt, Esty, Mica, Ioan L, Coker, Elizabeth A, Tym, Joseph E, Campbell, James, Che, Ka Hing, Ozer, Bugra, Kannas, Christos, Antolin, Albert A, Workman, Paul, Al-Lazikani, Bissan
Published in Nucleic Acids Research (08.01.2021)
Published in Nucleic Acids Research (08.01.2021)
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Resolving the full spectrum of human genome variation using Linked-Reads
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
Published in Genome research (01.04.2019)
Published in Genome research (01.04.2019)
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Identification of new Wilms tumour predisposition genes: an exome sequencing study
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
Published in The lancet child & adolescent health (01.05.2019)
Published in The lancet child & adolescent health (01.05.2019)
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Journal Article
ICR142 Benchmarker: evaluating, optimising and benchmarking variant calling using the ICR142 NGS validation series
Ruark, Elise, Holt, Esty, Renwick, Anthony, Münz, Márton, Wakeling, Matthew, Ellard, Sian, Mahamdallie, Shazia, Yost, Shawn, Rahman, Nazneen
Published in Wellcome open research (2018)
Published in Wellcome open research (2018)
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Journal Article
Resolving the Full Spectrum of Human Genome Variation using Linked-Reads
Marks, Patrick, Garcia, Sarah, Alvaro Martinez Barrio, 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, Chris, Ordonez, Heather, Patel, Pranav, Price, Andrew, Royall, Ariel, Ruark, Elise, Seal, Sheila, Schnall-Levin, Michael, Shah, Preyas, Williams, Stephen, Wu, Indira, Andrew Wei Xu, Rahman, Nazneen, Macarthur, Daniel, Church, Deanna M
Published in bioRxiv (14.09.2018)
Published in bioRxiv (14.09.2018)
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