Recommendations for laboratory workflow that better support centralised amalgamation of genomic variant data: findings from CanVIG-UK national molecular laboratory survey
Sophie Allen, Lucy Loong, Alice Garrett, Bethany Torr, Miranda Durkie, James Drummond, Alison Callaway, Rachel Robinson, George J Burghel, Helen Hanson, Joanne Field, Trudi McDevitt, Terri P McVeigh, Tina Bedenham, Christopher Bowles, Kirsty Bradshaw, Claire Brooks, Samantha Butler, Juan Carlos Del Rey Jimenez, Lorraine Hawkes, Victoria Stinton, Suzanne MacMahon, Martina Owens, Sheila Palmer-Smith, Kenneth Smith, James Tellez, Mikel Valganon-Petrizan, Erik Waskiewicz, Michael Yau, Diana M Eccles, Marc Tischkowitz, Shilpi Goel, Fiona McRonald, Antonis C Antoniou, Eva Morris, Steven Hardy, Clare Turnbull
Journal of Medical Genetics Apr 2024, 61 (4) 305-312; DOI: 10.1136/jmg-2023-109645