المؤلفون: David J. McBride, Claire Fielding, Taksina Newington, Alexandra Vatsiou, Harry Fischl, Maya Bajracharya, Vicki S. Thomson, Louise J. Fraser, Pauline A. Fujita, Jennifer Becq, Zoya Kingsbury, Mark T. Ross, Stuart J. Moat, Sian Morgan

المصدر: International Journal of Neonatal Screening, Vol 9, Iss 3, p 52 (2023)

مصطلحات موضوعية: whole genome sequencing, newborn screening, dried blood spots, DNA sequencing, cystic fibrosis, phenylketonuria, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2409-515X/9/3/52; https://doaj.org/toc/2409-515X

URL الوصول: https://doaj.org/article/1d0d217ac1d54d599cdda8b46aabf21d

المؤلفون: Zoya Kingsbury, Marc Laurent, Jason Bryant, Konstantinos D. Diakoumakos, Klaus Maisinger, Louise Fraser, Jean Ernest Sohna Sohna, Adrian Horgan, Patrick Mccauley, Jane Rogers, David W. Elmore, Mark A. Osborne, Juying Yan, Mark Smith, Milan Fedurco, Gary P. Schroth, Belen Dominguez-Fernandez, Heng Li, Andrea Sabot, Suzanne Wakelin, Cindy Lawley, Carole Anastasi, David Klenerman, David George, Daniel P. Pliskin, Mohammed D. Alam, Svilen S. Tzonev, Mark T. Reed, Xiaohai Liu, Asha Boodhun, Lu Zhang, Aylwyn Scally, T. A. Huw Jones, Ugonna C. Egbujor, Tzvetana H. Kerelska, George Stefan Golda, Shankar Balasubramanian, Lukasz Szajkowski, Mitch Lok, Mitch K. Shiver, Paul McNitt, Simon Chang, Maria Q. Johnson, Gyoung-Dong Kang, Victor J. Quijano, Sarah E. Lee, Mike Zuerlein, Maria Candelaria Rogert Bacigalupo, Alan D. Kersey, Selena G. Barbour, Dirk J. Evers, Andrew C. Pike, Stephen Rawlings, Karin Fuentes Fajardo, Mirian S. Karbelashvili, Matthew E. Hurles, Sonia M. Novo, Xavier Lee, James C. Burrows, John Stephen West, Jingwen Wang, Ify C. Aniebo, Natasha R. Crake, Christian D. Haudenschild, Richard Shaw, Come Raczy, W. Scott Furey, Wu Xiaolin, Lambros L. Paraschos, Josefina M. Seoane, John W. Martin, Katya Hoschler, Raquel Maria Sanches-Kuiper, Nick J. McCooke, Colin Barnes, Johannes P. Sluis, Abass A. Bundu, John Milton, R. Keira Cheetham, Nancy F. Hansen, Clive Gavin Brown, Nigel P. Carter, Richard J. Carter, Chiara Rodighiero, Kim B. Stevens, Shujun Luo, Radhika M. Mammen, Phyllida M. Roe, Melanie Anne Smith, Bojan Obradovic, Johnny T. Ho, Jennifer A. Loch, Terena James, Harold Swerdlow, Dale Buermann, David E. Green, Steve Hurwitz, Joe W. Mullens, Ning Sizto, Frank L. Oaks, Eli Rusman, Natalie J. Rourke, Nikolai Romanov, Anthony J. Smith, Claire Bevis, Selene M. Virk, Ling Yau, Yuli Verhovsky, D. Chris Pinkard, Stephanie Vandevondele, Vincent Peter Smith, Rob C. Brown, Eric J. Spence, Joe Podhasky, Ana Chiva Rodriguez, Michael Lawrence Parkinson, Anthony Romieu, Joe S. Brennan, Rithy K. Roth, David Mark Dunstan Bailey, Roberto Rigatti, Anil Kumar, Phillip J. Black, Primo Baybayan, Saibal Banerjee, Matthew M. Hims, Arnold Liao, R. Neil Cooley, Omead Ostadan, Vincent A. Benoit, Andrew A. Brown, Silke Ruediger, Leslie J. Irving, Parul Mehta, James C. Mullikin, Klaudia Walter, John Rogers, Jonathan Mark Boutell, Alex P. Kindwall, Paula Kokko-Gonzales, Alger C. Pike, Michael J. O'Neill, Eric Vermaas, Subramanian V. Sankar, Sean Humphray, Steven W. Short, Gerardo Turcatti, Helen Bignell, Kimberley J. Gietzen, Peta E. Torrance, Narinder I. Heyer, David James Earnshaw, Kevin Hall, Martin R. Schenker, Richard Durbin, Philip A. Granieri, Tobias William Barr Ost, Iain R. Bancarz, Lea Pickering, David L. Gustafson, Peter Lundberg, Niall Anthony Gormley, John Bridgham, Andrew Osnowski, Scott M. Kirk, Mark R. Ewan, Keith W. Moon, Bee Ling Ng, Graham John Worsley, Anthony J. Cox, Olubunmi O. Dada, Gregory C. Walcott, Sergey Etchin, Irina Khrebtukova, Kevin Benson, Vicki H. Rae, Zemin Ning, Carolyn Tregidgo, Nestor Castillo, Colin P. Goddard, Taksina Newington, Denis V. Ivanov, Anastassia Spiridou, Maria Chiara E. Catenazzi, Neil Sutton, Kevin Harnish, Darren James Ellis, Lisa Murray, Geoffrey Paul Smith, Mark T. Ross, David R. Bentley, M. R. Pratt, Isabelle Rasolonjatovo, Michael R. Flatbush

المصدر: Nature

مصطلحات موضوعية: Male, Genotype, 2 base encoding, Nigeria, Sequence assembly, Hybrid genome assembly, Genomics, Computational biology, Biology, Polymorphism, Single Nucleotide, Sensitivity and Specificity, Deep sequencing, Article, 03 medical and health sciences, 0302 clinical medicine, Consensus Sequence, Humans, Paired-end tag, 030304 developmental biology, Genetics, Whole genome sequencing, Chromosomes, Human, X, 0303 health sciences, Multidisciplinary, Genome, Human, DNA sequencing theory, Sequence Analysis, DNA, 030220 oncology & carcinogenesis

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::022d7d9b00e71b8efa160229e14eee34
https://infoscience.epfl.ch/record/129034