作者
Ilenia Simeoni, Jonathan C Stephens, Fengyuan Hu, Sri VV Deevi, Karyn Megy, Tadbir K Bariana, Claire Lentaigne, Sol Schulman, Suthesh Sivapalaratnam, Minka JA Vries, Sarah K Westbury, Daniel Greene, Sofia Papadia, Marie-Christine Alessi, Antony P Attwood, Matthias Ballmaier, Gareth Baynam, Emilse Bermejo, Marta Bertoli, Paul F Bray, Loredana Bury, Marco Cattaneo, Peter Collins, Louise C Daugherty, Rémi Favier, Deborah L French, Bruce Furie, Michael Gattens, Manuela Germeshausen, Cedric Ghevaert, Anne C Goodeve, Jose A Guerrero, Daniel J Hampshire, Daniel P Hart, Johan WM Heemskerk, Yvonne MC Henskens, Marian Hill, Nancy Hogg, Jennifer D Jolley, Walter H Kahr, Anne M Kelly, Ron Kerr, Myrto Kostadima, Shinji Kunishima, Michele P Lambert, Ri Liesner, José A López, Rutendo P Mapeta, Mary Mathias, Carolyn M Millar, Amit Nathwani, Marguerite Neerman-Arbez, Alan T Nurden, Paquita Nurden, Maha Othman, Kathelijne Peerlinck, David J Perry, Pawan Poudel, Pieter Reitsma, Matthew T Rondina, Peter A Smethurst, William Stevenson, Artur Szkotak, Salih Tuna, Christel Van Geet, Deborah Whitehorn, David A Wilcox, Bin Zhang, Shoshana Revel-Vilk, Paolo Gresele, Daniel B Bellissimo, Christopher J Penkett, Michael A Laffan, Andrew D Mumford, Augusto Rendon, Keith Gomez, Kathleen Freson, Willem H Ouwehand, Ernest Turro
发表日期
2016/6/9
期刊
Blood, The Journal of the American Society of Hematology
卷号
127
期号
23
页码范围
2791-2803
出版商
American Society of Hematology
简介
Inherited bleeding, thrombotic, and platelet disorders (BPDs) are diseases that affect ∼300 individuals per million births. With the exception of hemophilia and von Willebrand disease patients, a molecular analysis for patients with a BPD is often unavailable. Many specialized tests are usually required to reach a putative diagnosis and they are typically performed in a step-wise manner to control costs. This approach causes delays and a conclusive molecular diagnosis is often never reached, which can compromise treatment and impede rapid identification of affected relatives. To address this unmet diagnostic need, we designed a high-throughput sequencing platform targeting 63 genes relevant for BPDs. The platform can call single nucleotide variants, short insertions/deletions, and large copy number variants (though not inversions) which are subjected to automated filtering for diagnostic prioritization …
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I Simeoni, JC Stephens, F Hu, SVV Deevi, K Megy… - Blood, The Journal of the American Society of …, 2016