Recommendations for laboratory workflow that better support centralised amalgamation of genomic variant data: findings from CanVIG-UK national molecular laboratory survey
针对如何更好地支持基因组变异数据集中整合的实验室工作流程建议:来自 CanVIG-UK 国家分子实验室调查的结果
期刊:Journal of Medical Genetics
影响因子:3.7
doi:10.1136/jmg-2023-109645
Allen, Sophie; Loong, Lucy; Garrett, Alice; Torr, Bethany; Durkie, Miranda; Drummond, James; Callaway, Alison; Robinson, Rachel; Burghel, George J; Hanson, Helen; Field, Joanne; McDevitt, Trudi; McVeigh, Terri P; Bedenham, Tina; Bowles, Christopher; Bradshaw, Kirsty; Brooks, Claire; Butler, Samantha; Del Rey Jimenez, Juan Carlos; Hawkes, Lorraine; Stinton, Victoria; MacMahon, Suzanne; Owens, Martina; Palmer-Smith, Sheila; Smith, Kenneth; Tellez, James; Valganon-Petrizan, Mikel; Waskiewicz, Erik; Yau, Michael; Eccles, Diana M; Tischkowitz, Marc; Goel, Shilpi; McRonald, Fiona; Antoniou, Antonis C; Morris, Eva; Hardy, Steven; Turnbull, Clare