Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Natali Gulbahce"'
Autor:
Erin E. Peters, Zhenyu Li, Natali Gulbahce, Wenwei Zhang, Rebecca Yu Zhang, Radoje Drmanac, Robert Chin, Huixin Xu, Yuqing Deng, Weiwei Xie, Fang Chen, Qing Mao, Quan Shi, Brock A. Peters
Publikováno v:
Clinical Chemistry. 64:715-725
BACKGROUND Amniocentesis is a common procedure, the primary purpose of which is to collect cells from the fetus to allow testing for abnormal chromosomes, altered chromosomal copy number, or a small number of genes that have small single- to multibas
Autor:
R. Prates, Radoje Drmanac, Birgit Crain, Misha R. Agarwal, Brock A. Peters, Oleg Alferov, Mark A. McElwain, Rebecca Yu Zhang, Daniel M. Hayden, Rick Tearle, Natali Gulbahce, Alan S. Berkeley, Y. Tom Tang, Santiago Munné, Bahram Ghaffarzadeh Kermani
Publikováno v:
Genome Research. 25:426-434
Currently, the methods available for preimplantation genetic diagnosis (PGD) of in vitro fertilized (IVF) embryos do not detect de novo single-nucleotide and short indel mutations, which have been shown to cause a large fraction of genetic diseases.
Autor:
William Stedman, Han Cao, Michael Saghbini, Jason Bobe, Alex Hastie, David Catoe, Arend Sidow, Marc L. Salit, Kristina Giorda, Alexander Wait Zaranek, Stephen T. Sherry, Zeljko Dzakula, Gintaras Deikus, R Truty, Erich Jaeger, Alexa B. R. McIntyre, Karoline Bjarnesdatter Rypdal, Christopher C. Chang, Robert Sebra, Srinka Ghosh, Grace X.Y. Zheng, Jonathan Trow, Yuling Liu, Tiffany Y. Liang, Khoa Pham, Fiona Hyland, Heather Ordonez, Dhruva Chandramohan, Noah Spies, Ziming Weng, Sofia Kyriazopoulou-Panagiotopoulou, Yutao Fu, Eric E. Schadt, Lindsay K. Vang, Ali Bashir, Madeleine Ball, Christopher E. Mason, Preston W. Estep, Keyan Zhao, George M. Church, Justin M. Zook, Ying Sheng, Mark Chaisson, Patrick Marks, Natali Gulbahce, Elizabeth Henaff, Patrice A Mudivarti, Feng Chen, Jennifer McDaniel, Michael Schnall-Levin, Chunlin Xiao, Noah Alexander, Ali Moshrefi
Publikováno v:
Scientific Data
BMC Genomics
BMC Genomics
Background The human genome contains variants ranging in size from small single nucleotide polymorphisms (SNPs) to large structural variants (SVs). High-quality benchmark small variant calls for the pilot National Institute of Standards and Technolog
Autor:
Alyce A. Chen, David E. Hill, Amy M. Holthaus, Theodore R. Pak, Mariet C.W. Feltkamp, Danielle Byrdsong, James A. DeCaprio, Rachel Franchi, Melissa Duarte, Saurav Singh, Manor Askenazi, Orit Rozenblatt-Rosen, Jennifer M. Spangle, Rameen Beroukhim, Larisa Litovchick, Natali Gulbahce, Sam Pevzner, Miranda Grace, Sabrina Rabello, Karl Münger, Elliott Kieff, Anne-Ruxandra Carvunis, Yun Shen, Scott B. Ficarro, Thomas Rolland, Tong Hao, Brijesh K. Garg, Michael A. Calderwood, Anna Korkhin, Renee Rubio, Jessica C. Mar, Maria Tavares, Shelly Wanamaker, Murat Tasan, Frederick P. Roth, Fieda Abderazzaq, Robert James, James T. Webber, Albert-László Barabási, Jarrod A. Marto, Mick Correll, Changyu Fan, John Quackenbush, Megha Padi, Guillaume Adelmant, Rahul C. Deo, Amélie Dricot, Marc Vidal, Jingwei Cheng, Michael E. Cusick, Jennifer Roecklein-Canfield, Eric Johannsen
Publikováno v:
Nature, 487(7408), 491-495
Genotypic differences greatly influence susceptibility and resistance to disease. Understanding genotype-phenotype relationships requires that phenotypes be viewed as manifestations of network properties, rather than simply as the result of individua
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f9c84d9cde906583091007b3dbfeaf34
https://hdl.handle.net/1887/106305
https://hdl.handle.net/1887/106305