Recommendations for laboratory workflow that better support centralised amalgamation of genomic variant data: findings from CanVIG-UK national molecular laboratory survey

Conclusion The survey responses illustrate heterogeneous laboratory workflow for preparation of genomic variant data from local LIMS for centralised submission. Workflow is often labour-intensive and inefficient, involving multiple manual steps which introduce opportunities for error. These survey findings and adoption of the concomitant recommendations may support improvement in laboratory dataflows, better facilitating submission of data for central amalgamation.

http://jmg.bmj.com/cgi/content/short/61/4/305?rss=1

Source: Journal of Medical Genetics - March 21, 2024 Category: Genetics & Stem Cells Authors: Allen, S., Loong, L., Garrett, A., Torr, B., Durkie, M., Drummond, J., Callaway, A., Robinson, R., Burghel, G. J., Hanson, H., Field, J., McDevitt, T., McVeigh, T. P., Bedenham, T., Bowles, C., Bradshaw, K., Brooks, C., Butler, S., Del Rey Jimenez, J. C., Tags: Open access Clinical guidelines Source Type: research