At MRC Holland, we are gradually updating probe location annotations across our product documentation to align with MANE (Matched Annotation from NCBI and EMBL-EBI). This transition supports clearer variant interpretation and improves compatibility with widely used genomic resources in both clinical diagnostics and research settings.
What is changing?
As genes are transitioned to MANE exon numbering, the updated annotations will be reflected in the Coffalyser sheets of all probemixes containing the affected gene. Once implemented, newly added Coffalyser sheets will display the updated exon numbering.
To ensure that these updates are reflected in your Coffalyser.Net analyses, make sure to:
Temporary differences between Coffalyser.Net and Product Descriptions
As product descriptions across our vast portfolio are gradually being updated, you may temporarily encounter discrepancies between exon numbering displayed in Coffalyser.Net and information shown in certain product descriptions.
If you notice an inconsistency, we recommend the following:
If the inconsistency remains, it may be related to our phased rollout of updated product descriptions. In such cases, we recommend confirming the exact probe location using the probe sequences provided in the latest product description or probe sequence sheet available on the product page at www.mrcholland.com.
Need assistance?
Our Technical Support Specialists are happy to help with any questions regarding the transition to MANE exon numbering or potential discrepancies between documentation and software output. Please contact us at info@mrcholland.com.