Next Generation Sequencing in Newborn Screening in the United Kingdom National Health Service

by Julia C. van Campen, Elizabeth S. A. Sollars, Rebecca C. Thomas, Clare M. Bartlett, Antonio Milano, Matthew D. Parker, Jennifer Dawe, Peter R. Winship, Gerrard Peck, Darren Grafham, Richard J. Kirk, James R. Bonham, Anne C. Goodeve, Ann Dalton
Published 2019-11-01

Discovery of candidate disease genes in ENU-induced mouse mutants by large-scale sequencing, including a splice-site mutation in nucleoredoxin.

by Melissa K Boles, Bonney M Wilkinson, Laurens G Wilming, Bin Liu, Frank J Probst, Jennifer Harrow, Darren Grafham, Kathryn E Hentges, Lanette P Woodward, Andrea Maxwell, Karen Mitchell, Michael D Risley, Randy Johnson, Karen Hirschi, James R Lupski, Yosuke Funato, Hiroaki Miki, Pablo Marin-Garcia, Lucy Matthews, Alison J Coffey, Anne Parker, Tim J Hubbard, Jane Rogers, Allan Bradley, David J Adams, Monica J Justice
Published 2009-12-01

Modernizing reference genome assemblies.

by Deanna M Church, Valerie A Schneider, Tina Graves, Katherine Auger, Fiona Cunningham, Nathan Bouk, Hsiu-Chuan Chen, Richa Agarwala, William M McLaren, Graham R S Ritchie, Derek Albracht, Milinn Kremitzki, Susan Rock, Holland Kotkiewicz, Colin Kremitzki, Aye Wollam, Lee Trani, Lucinda Fulton, Robert Fulton, Lucy Matthews, Siobhan Whitehead, Will Chow, James Torrance, Matthew Dunn, Glenn Harden, Glen Threadgold, Jonathan Wood, Joanna Collins, Paul Heath, Guy Griffiths, Sarah Pelan, Darren Grafham, Evan E Eichler, George Weinstock, Elaine R Mardis, Richard K Wilson, Kerstin Howe, Paul Flicek, Tim Hubbard
Published 2011-07-01