should be a true reference sequence and not a consensus sequence); and (iii) the original nucleotide numbering should be retained. The last suggestion represents a compromise between accuracy ...

The prerequisites for creating such programs include a reference sequence for the gene of interest, a system for classifying the source of a sequence, an accepted ontology for correlating ...

In the current version of the reference, called GRCh38 or Build 38, 93 percent of the sequence comes from just 11 individuals and 70 percent from just one man, resulting in a lack of diversity and at ...