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  6. For the reference genome, will the name of reference sequence in a publically available database be sufficient (e.g. GRCh38 from NCBI)?

FAQ

For the reference genome, will the name of reference sequence in a publically available database be sufficient (e.g. <a href="https://www.ncbi.nlm.nih.gov/genome/51?genome_assembly_id=322645" target="_blank">GRCh38</a> from NCBI)?

No, these databases are regularly updated, so there may be minor variations between the customer sequence and the published sequence. Please provide a link to the exact version of the genome to be used as a reference sequence, to which the positions in the polymorphism definition file refer (e.g. GRCh38).